Linked Data
ClinVar Variation Id:
180270
dbSNP Id:
rs149645600
ExAC:
4:114275980 G / A
gnomAD v2:
4-114275980-G-A
gnomAD v3:
4-113354824-G-A
gnomAD v4:
4-113354824-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.113354824G>A , CM000666.2:g.113354824G>A | GRCh38 |
| NC_000004.11:g.114275980G>A , CM000666.1:g.114275980G>A | GRCh37 |
| NC_000004.10:g.114495429G>A | NCBI36 |
| NG_009006.2:g.541742G>A , LRG_327:g.541742G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000506344.6:c.6347G>A | ENSP00000422888.2:p.Arg2116His | |
| ENST00000705785.1:c.4507+4575G>A | ENSP00000516169.1:n.4507+4575G>A | |
| ENST00000510275.8:c.1108+4575G>A | ENSP00000421023.4:n.1108+4575G>A | |
| ENST00000681990.1:n.2063+4575G>A | ||
| ENST00000682049.1:n.1271+4575G>A | ||
| ENST00000683723.1:n.3439+4575G>A | ||
| ENST00000683826.1:n.2806+4575G>A | ||
| ENST00000683972.1:n.3051G>A | ||
| ENST00000684225.1:n.2152+4575G>A | ||
| ENST00000684470.1:n.2570+4575G>A | ||
| ENST00000357077.9:c.6206G>A MANE Select | ENSP00000349588.4:p.Arg2069His | |
| ENST00000503423.6:c.6044G>A | ENSP00000421011.2:p.Arg2015His | |
| ENST00000505342.6:c.1813+4575G>A | ENSP00000422498.2:n.1813+4575G>A | |
| ENST00000510275.7:c.136+4575G>A | ENSP00000421023.3:n.136+4575G>A | |
| ENST00000671704.1:c.4240+4575G>A | ENSP00000500926.1:n.4240+4575G>A | |
| ENST00000671727.1:c.4327+4575G>A | ENSP00000500102.1:n.4327+4575G>A | |
| ENST00000671756.1:c.4264+4575G>A | ENSP00000500712.1:n.4264+4575G>A | |
| ENST00000671762.1:c.4462+4575G>A | ENSP00000500954.1:n.4462+4575G>A | |
| ENST00000671793.1:c.4363+4575G>A | ENSP00000499928.1:n.4363+4575G>A | |
| ENST00000671809.1:c.6080G>A | ENSP00000500872.1:p.Arg2027His | |
| ENST00000671825.1:c.4363+4575G>A | ENSP00000500459.1:n.4363+4575G>A | |
| ENST00000671854.1:c.4165+4575G>A | ENSP00000500833.1:n.4165+4575G>A | |
| ENST00000671863.1:c.4243-5999G>A | ENSP00000500855.1:n.4243-5999G>A | |
| ENST00000671882.1:c.6023G>A | ENSP00000499887.1:p.Arg2008His | |
| ENST00000671893.1:c.4042+4575G>A | ENSP00000499986.1:n.4042+4575G>A | |
| ENST00000671906.1:c.6020G>A | ENSP00000499953.1:p.Arg2007His | |
| ENST00000671951.1:c.4141+4575G>A | ENSP00000500528.1:n.4141+4575G>A | |
| ENST00000671971.1:c.6251G>A | ENSP00000499832.1:p.Arg2084His | |
| ENST00000672045.1:c.4264+4575G>A | ENSP00000499959.1:n.4264+4575G>A | |
| ENST00000672068.1:c.6044G>A | ENSP00000499902.1:p.Arg2015His | |
| ENST00000672088.1:c.4240+4575G>A | ENSP00000499837.1:n.4240+4575G>A | |
| ENST00000672090.1:c.6044G>A | ENSP00000500540.1:p.Arg2015His | |
| ENST00000672177.1:c.4276+4575G>A | ENSP00000500918.1:n.4276+4575G>A | |
| ENST00000672209.1:c.6044G>A | ENSP00000499982.1:p.Arg2015His | |
| ENST00000672221.1:c.4261+4575G>A | ENSP00000500473.1:n.4261+4575G>A | |
| ENST00000672240.1:c.6287G>A | ENSP00000500548.1:p.Arg2096His | |
| ENST00000672246.1:c.4249+4575G>A | ENSP00000499990.1:n.4249+4575G>A | |
| ENST00000672251.1:c.6008G>A | ENSP00000500580.1:p.Arg2003His | |
| ENST00000672312.1:c.4264+4575G>A | ENSP00000500378.1:n.4264+4575G>A | |
| ENST00000672315.1:c.4363+4575G>A | ENSP00000500780.1:n.4363+4575G>A | |
| ENST00000672350.1:c.4201+4575G>A | ENSP00000500420.1:n.4201+4575G>A | |
| ENST00000672356.1:c.4141+4575G>A | ENSP00000500544.1:n.4141+4575G>A | |
| ENST00000672362.1:c.4399+4575G>A | ENSP00000500522.1:n.4399+4575G>A | |
| ENST00000672366.1:c.4327+4575G>A | ENSP00000500937.1:n.4327+4575G>A | |
| ENST00000672402.1:c.4363+4575G>A | ENSP00000500881.1:n.4363+4575G>A | |
| ENST00000672411.1:c.1990+4575G>A | ENSP00000499979.1:n.1990+4575G>A | |
| ENST00000672502.1:c.6107G>A | ENSP00000499870.1:p.Arg2036His | |
| ENST00000672684.1:c.4165+4575G>A | ENSP00000499943.1:n.4165+4575G>A | |
| ENST00000672696.1:c.4363+4575G>A | ENSP00000499828.1:n.4363+4575G>A | |
| ENST00000672731.1:c.4240+4575G>A | ENSP00000500908.1:n.4240+4575G>A | |
| ENST00000672759.1:c.4141+4575G>A | ENSP00000499881.1:n.4141+4575G>A | |
| ENST00000672779.1:c.4471+4575G>A | ENSP00000499869.1:n.4471+4575G>A | |
| ENST00000672793.1:c.4264+4575G>A | ENSP00000500150.1:n.4264+4575G>A | |
| ENST00000672830.1:c.6143G>A | ENSP00000500222.1:p.Arg2048His | |
| ENST00000672854.1:c.4228+4575G>A | ENSP00000500311.1:n.4228+4575G>A | |
| ENST00000672880.1:c.4264+4575G>A | ENSP00000500866.1:n.4264+4575G>A | |
| ENST00000672915.1:c.1813+4575G>A | ENSP00000500622.1:n.1813+4575G>A | |
| ENST00000672930.1:c.6044G>A | ENSP00000499913.1:p.Arg2015His | |
| ENST00000672934.1:c.5945G>A | ENSP00000500645.1:p.Arg1982His | |
| ENST00000672955.1:c.4240+4575G>A | ENSP00000500527.1:n.4240+4575G>A | |
| ENST00000672965.1:c.4300+4575G>A | ENSP00000499891.1:n.4300+4575G>A | |
| ENST00000672986.1:c.3844+4575G>A | ENSP00000499967.1:n.3844+4575G>A | |
| ENST00000672990.1:c.4300+4575G>A | ENSP00000500275.1:n.4300+4575G>A | |
| ENST00000673044.1:c.4363+4575G>A | ENSP00000500933.1:n.4363+4575G>A | |
| ENST00000673048.1:c.1975+4575G>A | ENSP00000500832.1:n.1975+4575G>A | |
| ENST00000673109.1:c.5921G>A | ENSP00000500265.1:p.Arg1974His | |
| ENST00000673231.1:c.1990+4575G>A | ENSP00000500111.1:n.1990+4575G>A | |
| ENST00000673240.1:c.4471+4575G>A | ENSP00000499996.1:n.4471+4575G>A | |
| ENST00000673255.1:c.4264+4575G>A | ENSP00000500423.1:n.4264+4575G>A | |
| ENST00000673298.1:c.6044G>A | ENSP00000500245.1:p.Arg2015His | |
| ENST00000673334.1:c.6044G>A | ENSP00000500854.1:p.Arg2015His | |
| ENST00000673353.1:c.1954+4575G>A | ENSP00000500007.1:n.1954+4575G>A | |
| ENST00000673363.1:c.6152G>A | ENSP00000500539.1:p.Arg2051His | |
| ENST00000673430.1:c.4264+4575G>A | ENSP00000500269.1:n.4264+4575G>A | |
| ENST00000673453.1:c.4192+4575G>A | ENSP00000500112.1:n.4192+4575G>A | |
| ENST00000673536.1:c.3934+4575G>A | ENSP00000500524.1:n.3934+4575G>A | |
| ENST00000673538.1:c.1933-5999G>A | ENSP00000500842.1:n.1933-5999G>A | |
| ENST00000673546.1:c.4201+4575G>A | ENSP00000500843.1:n.4201+4575G>A | |
| ENST00000673555.1:c.6044G>A | ENSP00000500947.1:p.Arg2015His | |
| ENST00000673573.1:c.5981G>A | ENSP00000500883.1:p.Arg1994His | |
| ENST00000264366.10:c.6107G>A | ENSP00000264366.6:p.Arg2036His | |
| ENST00000357077.8:c.6206G>A | ENSP00000349588.4:p.Arg2069His | |
| ENST00000394537.7:c.4426+4575G>A | ENSP00000378044.3:n.4426+4575G>A | |
| ENST00000504415.5:c.383+4575G>A | ||
| ENST00000506722.5:c.4399+4575G>A | ENSP00000421067.1:n.4399+4575G>A | |
| ENST00000508007.5:n.535+4575G>A | ||
| ENST00000509550.5:c.1954+4575G>A | ENSP00000426944.1:n.1954+4575G>A | |
| ENST00000510275.6:c.382+4575G>A | ENSP00000421023.2:n.382+4575G>A | |
| ENST00000514960.5:c.1430+4575G>A | ||
| NM_001127493.1:c.4399+4575G>A , LRG_327t2:c.4399+4575G>A | NP_001120965.1:n.4399+4575G>A | |
| NM_001148.4:c.6206G>A , LRG_327t1:c.6206G>A | NP_001139.3:p.Arg2069His | |
| NM_020977.3:c.4426+4575G>A | NP_066187.2:n.4426+4575G>A | |
| XM_005262942.3:c.6239G>A | XP_005262999.1:p.Arg2080His | |
| XM_005262945.1:c.6107G>A | XP_005263002.1:p.Arg2036His | |
| XM_005262948.3:c.4423+4575G>A | XP_005263005.1:n.4423+4575G>A | |
| XM_006714188.2:c.6293G>A | XP_006714251.1:p.Arg2098His | |
| XM_006714189.2:c.6257G>A | XP_006714252.1:p.Arg2086His | |
| XM_006714190.2:c.4480+4575G>A | XP_006714253.1:n.4480+4575G>A | |
| XM_006714191.2:c.4513+4575G>A | XP_006714254.1:n.4513+4575G>A | |
| XM_006714192.2:c.4444+4575G>A | XP_006714255.1:n.4444+4575G>A | |
| XM_006714193.2:c.4513+4575G>A | XP_006714256.1:n.4513+4575G>A | |
| XM_006714194.2:c.6233G>A | XP_006714257.1:p.Arg2078His | |
| XM_011531891.1:c.6278G>A | XP_011530193.1:p.Arg2093His | |
| NM_001127493.2:c.4399+4575G>A | NP_001120965.1:n.4399+4575G>A | |
| NM_001148.5:c.6206G>A | NP_001139.3:p.Arg2069His | |
| NM_001354225.1:c.4438+4575G>A | NP_001341154.1:n.4438+4575G>A | |
| NM_001354228.1:c.4327+4575G>A | NP_001341157.1:n.4327+4575G>A | |
| NM_001354230.1:c.4405+4575G>A | NP_001341159.1:n.4405+4575G>A | |
| NM_001354231.1:c.4468+4575G>A | NP_001341160.1:n.4468+4575G>A | |
| NM_001354232.1:c.4462+4575G>A | NP_001341161.1:n.4462+4575G>A | |
| NM_001354235.1:c.4423+4575G>A | NP_001341164.1:n.4423+4575G>A | |
| NM_001354236.1:c.4324+4575G>A | NP_001341165.1:n.4324+4575G>A | |
| NM_001354237.1:c.4504+4575G>A | NP_001341166.1:n.4504+4575G>A | |
| NM_001354239.1:c.4396+4575G>A | NP_001341168.1:n.4396+4575G>A | |
| NM_001354240.1:c.4471+4575G>A | NP_001341169.1:n.4471+4575G>A | |
| NM_001354241.1:c.4471+4575G>A | NP_001341170.1:n.4471+4575G>A | |
| NM_001354242.1:c.4468+4575G>A | NP_001341171.1:n.4468+4575G>A | |
| NM_001354243.1:c.4363+4575G>A | NP_001341172.1:n.4363+4575G>A | |
| NM_001354244.1:c.4360+4575G>A | NP_001341173.1:n.4360+4575G>A | |
| NM_001354245.1:c.4264+4575G>A | NP_001341174.1:n.4264+4575G>A | |
| NM_001354246.1:c.4423+4575G>A | NP_001341175.1:n.4423+4575G>A | |
| NM_001354249.1:c.4240+4575G>A | NP_001341178.1:n.4240+4575G>A | |
| NM_001354252.1:c.4396+4575G>A | NP_001341181.1:n.4396+4575G>A | |
| NM_001354253.1:c.4201+4575G>A | NP_001341182.1:n.4201+4575G>A | |
| NM_001354254.1:c.4375+4575G>A | NP_001341183.1:n.4375+4575G>A | |
| NM_001354255.1:c.4363+4575G>A | NP_001341184.1:n.4363+4575G>A | |
| NM_001354256.1:c.4360+4575G>A | NP_001341185.1:n.4360+4575G>A | |
| NM_001354257.1:c.4165+4575G>A | NP_001341186.1:n.4165+4575G>A | |
| NM_001354258.1:c.4327+4575G>A | NP_001341187.1:n.4327+4575G>A | |
| NM_001354260.1:c.4141+4575G>A | NP_001341189.1:n.4141+4575G>A | |
| NM_001354261.1:c.4285+4575G>A | NP_001341190.1:n.4285+4575G>A | |
| NM_001354262.1:c.4264+4575G>A | NP_001341191.1:n.4264+4575G>A | |
| NM_001354264.1:c.4261+4575G>A | NP_001341193.1:n.4261+4575G>A | |
| NM_001354265.1:c.4423+4575G>A | NP_001341194.1:n.4423+4575G>A | |
| NM_001354266.1:c.4240+4575G>A | NP_001341195.1:n.4240+4575G>A | |
| NM_001354267.1:c.4240+4575G>A | NP_001341196.1:n.4240+4575G>A | |
| NM_001354268.1:c.4228+4575G>A | NP_001341197.1:n.4228+4575G>A | |
| NM_001354269.1:c.4213+4575G>A | NP_001341198.1:n.4213+4575G>A | |
| NM_001354270.1:c.4201+4575G>A | NP_001341199.1:n.4201+4575G>A | |
| NM_001354271.1:c.4141+4575G>A | NP_001341200.1:n.4141+4575G>A | |
| NM_001354272.1:c.4297+4575G>A | NP_001341201.1:n.4297+4575G>A | |
| NM_001354273.1:c.4126+4575G>A | NP_001341202.1:n.4126+4575G>A | |
| NM_001354274.1:c.4192+4575G>A | NP_001341203.1:n.4192+4575G>A | |
| NM_001354275.1:c.4264+4575G>A | NP_001341204.1:n.4264+4575G>A | |
| NM_001354276.1:c.4240+4575G>A | NP_001341205.1:n.4240+4575G>A | |
| NM_001354277.1:c.4042+4575G>A | NP_001341206.1:n.4042+4575G>A | |
| NM_001354278.1:c.1954+4575G>A | NP_001341207.1:n.1954+4575G>A | |
| NM_001354279.1:c.1990+4575G>A | NP_001341208.1:n.1990+4575G>A | |
| NM_001354280.1:c.1975+4575G>A | NP_001341209.1:n.1975+4575G>A | |
| NM_001354281.1:c.1954+4575G>A | NP_001341210.1:n.1954+4575G>A | |
| NM_001354282.1:c.1990+4575G>A | NP_001341211.1:n.1990+4575G>A | |
| NM_020977.4:c.4426+4575G>A | NP_066187.2:n.4426+4575G>A | |
| XM_005262945.3:c.6107G>A | XP_005263002.1:p.Arg2036His | |
| XM_017008067.1:c.6347G>A | XP_016863556.1:p.Arg2116His | |
| XM_017008069.1:c.6323G>A | XP_016863558.1:p.Arg2108His | |
| XM_017008071.2:c.6233G>A | XP_016863560.1:p.Arg2078His | |
| XM_017008072.2:c.6209G>A | XP_016863561.1:p.Arg2070His | |
| XM_017008073.2:c.6206G>A | XP_016863562.1:p.Arg2069His | |
| XM_017008074.2:c.6179G>A | XP_016863563.1:p.Arg2060His | |
| XM_017008075.2:c.6143G>A | XP_016863564.1:p.Arg2048His | |
| XM_017008076.2:c.6206G>A | XP_016863565.1:p.Arg2069His | |
| XM_017008077.2:c.6020G>A | XP_016863566.1:p.Arg2007His | |
| XM_017008078.2:c.4426+4575G>A | XP_016863567.1:n.4426+4575G>A | |
| XM_017008080.2:c.4276+4575G>A | XP_016863569.1:n.4276+4575G>A | |
| XM_024454016.1:c.6242G>A | XP_024309784.1:p.Arg2081His | |
| XM_024454017.1:c.4462+4575G>A | XP_024309785.1:n.4462+4575G>A | |
| XM_024454018.1:c.4327+4575G>A | XP_024309786.1:n.4327+4575G>A | |
| XM_024454019.1:c.4405+4575G>A | XP_024309787.1:n.4405+4575G>A | |
| XM_024454020.1:c.4327+4575G>A | XP_024309788.1:n.4327+4575G>A | |
| XM_024454021.1:c.4324+4575G>A | XP_024309789.1:n.4324+4575G>A | |
| XM_024454022.1:c.4264+4575G>A | XP_024309790.1:n.4264+4575G>A | |
| XM_024454023.1:c.4126+4575G>A | XP_024309791.1:n.4126+4575G>A | |
| NM_001148.6:c.6206G>A MANE Select | NP_001139.3:p.Arg2069His | |
| NM_001127493.3:c.4399+4575G>A | NP_001120965.1:n.4399+4575G>A | |
| NM_001354225.2:c.4438+4575G>A | NP_001341154.1:n.4438+4575G>A | |
| NM_001354228.2:c.4327+4575G>A | NP_001341157.1:n.4327+4575G>A | |
| NM_001354230.2:c.4405+4575G>A | NP_001341159.1:n.4405+4575G>A | |
| NM_001354231.2:c.4468+4575G>A | NP_001341160.1:n.4468+4575G>A | |
| NM_001354232.2:c.4462+4575G>A | NP_001341161.1:n.4462+4575G>A | |
| NM_001354235.2:c.4423+4575G>A | NP_001341164.1:n.4423+4575G>A | |
| NM_001354236.2:c.4324+4575G>A | NP_001341165.1:n.4324+4575G>A | |
| NM_001354237.2:c.4504+4575G>A | NP_001341166.1:n.4504+4575G>A | |
| NM_001354239.2:c.4396+4575G>A | NP_001341168.1:n.4396+4575G>A | |
| NM_001354240.2:c.4471+4575G>A | NP_001341169.1:n.4471+4575G>A | |
| NM_001354241.2:c.4471+4575G>A | NP_001341170.1:n.4471+4575G>A | |
| NM_001354242.2:c.4468+4575G>A | NP_001341171.1:n.4468+4575G>A | |
| NM_001354243.2:c.4363+4575G>A | NP_001341172.1:n.4363+4575G>A | |
| NM_001354244.2:c.4360+4575G>A | NP_001341173.1:n.4360+4575G>A | |
| NM_001354245.2:c.4264+4575G>A | NP_001341174.1:n.4264+4575G>A | |
| NM_001354246.2:c.4423+4575G>A | NP_001341175.1:n.4423+4575G>A | |
| NM_001354249.2:c.4240+4575G>A | NP_001341178.1:n.4240+4575G>A | |
| NM_001354252.2:c.4396+4575G>A | NP_001341181.1:n.4396+4575G>A | |
| NM_001354253.2:c.4201+4575G>A | NP_001341182.1:n.4201+4575G>A | |
| NM_001354254.2:c.4375+4575G>A | NP_001341183.1:n.4375+4575G>A | |
| NM_001354255.2:c.4363+4575G>A | NP_001341184.1:n.4363+4575G>A | |
| NM_001354256.2:c.4360+4575G>A | NP_001341185.1:n.4360+4575G>A | |
| NM_001354257.2:c.4165+4575G>A | NP_001341186.1:n.4165+4575G>A | |
| NM_001354258.2:c.4327+4575G>A | NP_001341187.1:n.4327+4575G>A | |
| NM_001354260.2:c.4141+4575G>A | NP_001341189.1:n.4141+4575G>A | |
| NM_001354261.2:c.4285+4575G>A | NP_001341190.1:n.4285+4575G>A | |
| NM_001354262.2:c.4264+4575G>A | NP_001341191.1:n.4264+4575G>A | |
| NM_001354264.2:c.4261+4575G>A | NP_001341193.1:n.4261+4575G>A | |
| NM_001354265.2:c.4423+4575G>A | NP_001341194.1:n.4423+4575G>A | |
| NM_001354266.2:c.4240+4575G>A | NP_001341195.1:n.4240+4575G>A | |
| NM_001354267.2:c.4240+4575G>A | NP_001341196.1:n.4240+4575G>A | |
| NM_001354268.2:c.4228+4575G>A | NP_001341197.1:n.4228+4575G>A | |
| NM_001354269.3:c.4213+4575G>A | NP_001341198.1:n.4213+4575G>A | |
| NM_001354270.2:c.4201+4575G>A | NP_001341199.1:n.4201+4575G>A | |
| NM_001354271.2:c.4141+4575G>A | NP_001341200.1:n.4141+4575G>A | |
| NM_001354272.2:c.4297+4575G>A | NP_001341201.1:n.4297+4575G>A | |
| NM_001354273.2:c.4126+4575G>A | NP_001341202.1:n.4126+4575G>A | |
| NM_001354274.2:c.4192+4575G>A | NP_001341203.1:n.4192+4575G>A | |
| NM_001354275.2:c.4264+4575G>A | NP_001341204.1:n.4264+4575G>A | |
| NM_001354276.2:c.4240+4575G>A | NP_001341205.1:n.4240+4575G>A | |
| NM_001354277.2:c.4042+4575G>A | NP_001341206.1:n.4042+4575G>A | |
| NM_001354278.2:c.1954+4575G>A | NP_001341207.1:n.1954+4575G>A | |
| NM_001354279.2:c.1990+4575G>A | NP_001341208.1:n.1990+4575G>A | |
| NM_001354280.2:c.1975+4575G>A | NP_001341209.1:n.1975+4575G>A | |
| NM_001354281.2:c.1954+4575G>A | NP_001341210.1:n.1954+4575G>A | |
| NM_001354282.2:c.1990+4575G>A | NP_001341211.1:n.1990+4575G>A | |
| NM_001386142.1:c.5972G>A | NP_001373071.1:p.Arg1991His | |
| NM_001386143.1:c.4363+4575G>A | NP_001373072.1:n.4363+4575G>A | |
| NM_001386144.1:c.4471+4575G>A | NP_001373073.1:n.4471+4575G>A | |
| NM_001386146.1:c.4207+4575G>A | NP_001373075.1:n.4207+4575G>A | |
| NM_001386147.1:c.4252+4575G>A | NP_001373076.1:n.4252+4575G>A | |
| NM_001386148.2:c.4411+4575G>A | NP_001373077.1:n.4411+4575G>A | |
| NM_001386149.1:c.4207+4575G>A | NP_001373078.1:n.4207+4575G>A | |
| NM_001386150.1:c.4207+4575G>A | NP_001373079.1:n.4207+4575G>A | |
| NM_001386151.1:c.4141+4575G>A | NP_001373080.1:n.4141+4575G>A | |
| NM_001386152.1:c.4483+4575G>A | NP_001373081.1:n.4483+4575G>A | |
| NM_001386153.1:c.4207+4575G>A | NP_001373082.1:n.4207+4575G>A | |
| NM_001386154.1:c.4192+4575G>A | NP_001373083.1:n.4192+4575G>A | |
| NM_001386156.1:c.4165+4575G>A | NP_001373085.1:n.4165+4575G>A | |
| NM_001386157.1:c.4042+4575G>A | NP_001373086.1:n.4042+4575G>A | |
| NM_001386158.1:c.3943+4575G>A | NP_001373087.1:n.3943+4575G>A | |
| NM_001386160.1:c.4270+4575G>A | NP_001373089.1:n.4270+4575G>A | |
| NM_001386161.1:c.4360+4575G>A | NP_001373090.1:n.4360+4575G>A | |
| NM_001386162.1:c.4240+4575G>A | NP_001373091.1:n.4240+4575G>A | |
| NM_001386166.1:c.2606G>A | NP_001373095.1:p.Arg869His | |
| NM_001386167.1:c.826+4575G>A | NP_001373096.1:n.826+4575G>A | |
| NM_001386174.1:c.6347G>A | NP_001373103.1:p.Arg2116His | |
| NM_001386175.1:c.6323G>A | NP_001373104.1:p.Arg2108His | |
| NM_001386186.2:c.4411+4575G>A | NP_001373115.1:n.4411+4575G>A | |
| NM_001386187.2:c.4291+4575G>A | NP_001373116.1:n.4291+4575G>A | |
| NM_020977.5:c.4426+4575G>A | NP_066187.2:n.4426+4575G>A |