Revel Score:
ENST00000506722
0.446
ENST00000431447
0.446
ENST00000394537
0.446
ENST00000357077 (MANE Select)
0.446
ENST00000264366
0.446
ENST00000343056
0.446
ENST00000509550
0.446
ENST00000510275
0.446
ENST00000505342
0.446
ENST00000514960
0.072
ENST00000506344
0.072
ENST00000514167
0.072
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00398404 (MID)
Genomes Max Group AF
0.00309247 (NFE)
Exomes Max Group AF
0.0038904 (MID)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.113373381G>A , CM000666.2:g.113373381G>A | GRCh38 |
| NC_000004.11:g.114294537G>A , CM000666.1:g.114294537G>A | GRCh37 |
| NC_000004.10:g.114513986G>A | NCBI36 |
| NG_009006.2:g.560299G>A , LRG_327:g.560299G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000506344.6:c.12025G>A | ENSP00000422888.2:p.Glu4009Lys | |
| ENST00000705785.1:c.5617G>A | ENSP00000516169.1:p.Glu1873Lys | |
| ENST00000510275.8:c.2037+3576G>A | ENSP00000421023.4:n.2037+3576G>A | |
| ENST00000612754.2:c.2716G>A | ENSP00000482888.2:p.Glu906Lys | |
| ENST00000681990.1:n.3173G>A | ||
| ENST00000682049.1:n.2381G>A | ||
| ENST00000682959.1:n.6409G>A | ||
| ENST00000683389.1:n.1954G>A | ||
| ENST00000683777.1:n.2594G>A | ||
| ENST00000683826.1:n.3735+3576G>A | ||
| ENST00000683893.1:n.1897G>A | ||
| ENST00000683908.1:n.2290G>A | ||
| ENST00000683972.1:n.8636G>A | ||
| ENST00000684225.1:n.3262G>A | ||
| ENST00000684230.1:n.3472+208G>A | ||
| ENST00000684378.1:n.4530G>A | ||
| ENST00000684470.1:n.3773G>A | ||
| ENST00000684730.1:n.5179G>A | ||
| ENST00000357077.9:c.11791G>A MANE Select | ENSP00000349588.4:p.Glu3931Lys | |
| ENST00000503423.6:c.11629G>A | ENSP00000421011.2:p.Glu3877Lys | |
| ENST00000505342.6:c.2923G>A | ENSP00000422498.2:p.Glu975Lys | |
| ENST00000510275.7:c.1339G>A | ENSP00000421023.3:p.Glu447Lys | |
| ENST00000671704.1:c.5350G>A | ENSP00000500926.1:p.Glu1784Lys | |
| ENST00000671727.1:c.5530G>A | ENSP00000500102.1:p.Glu1844Lys | |
| ENST00000671756.1:c.5277+208G>A | ENSP00000500712.1:n.5277+208G>A | |
| ENST00000671762.1:c.5665G>A | ENSP00000500954.1:p.Glu1889Lys | |
| ENST00000671793.1:c.5566G>A | ENSP00000499928.1:p.Glu1856Lys | |
| ENST00000671809.1:c.11665G>A | ENSP00000500872.1:p.Glu3889Lys | |
| ENST00000671825.1:c.5473G>A | ENSP00000500459.1:p.Glu1825Lys | |
| ENST00000671854.1:c.5275G>A | ENSP00000500833.1:p.Glu1759Lys | |
| ENST00000671863.1:c.*1029G>A | ENSP00000500855.1:n.*1029G>A | |
| ENST00000671882.1:c.11428-1383G>A | ENSP00000499887.1:n.11428-1383G>A | |
| ENST00000671893.1:c.5055+208G>A | ENSP00000499986.1:n.5055+208G>A | |
| ENST00000671906.1:c.11605G>A | ENSP00000499953.1:p.Glu3869Lys | |
| ENST00000671951.1:c.5251G>A | ENSP00000500528.1:p.Glu1751Lys | |
| ENST00000671971.1:c.11836G>A | ENSP00000499832.1:p.Glu3946Lys | |
| ENST00000672045.1:c.5374G>A | ENSP00000499959.1:p.Glu1792Lys | |
| ENST00000672068.1:c.11722G>A | ENSP00000499902.1:p.Glu3908Lys | |
| ENST00000672088.1:c.5350G>A | ENSP00000499837.1:p.Glu1784Lys | |
| ENST00000672090.1:c.11629G>A | ENSP00000500540.1:p.Glu3877Lys | |
| ENST00000672177.1:c.5386G>A | ENSP00000500918.1:p.Glu1796Lys | |
| ENST00000672209.1:c.11722G>A | ENSP00000499982.1:p.Glu3908Lys | |
| ENST00000672221.1:c.5371G>A | ENSP00000500473.1:p.Glu1791Lys | |
| ENST00000672240.1:c.11872G>A | ENSP00000500548.1:p.Glu3958Lys | |
| ENST00000672246.1:c.5262+208G>A | ENSP00000499990.1:n.5262+208G>A | |
| ENST00000672251.1:c.11593G>A | ENSP00000500580.1:p.Glu3865Lys | |
| ENST00000672312.1:c.5374G>A | ENSP00000500378.1:p.Glu1792Lys | |
| ENST00000672315.1:c.5292+3576G>A | ENSP00000500780.1:n.5292+3576G>A | |
| ENST00000672350.1:c.5311G>A | ENSP00000500420.1:p.Glu1771Lys | |
| ENST00000672356.1:c.5251G>A | ENSP00000500544.1:p.Glu1751Lys | |
| ENST00000672362.1:c.5602G>A | ENSP00000500522.1:p.Glu1868Lys | |
| ENST00000672366.1:c.5437G>A | ENSP00000500937.1:p.Glu1813Lys | |
| ENST00000672402.1:c.5566G>A | ENSP00000500881.1:p.Glu1856Lys | |
| ENST00000672411.1:c.3003+208G>A | ENSP00000499979.1:n.3003+208G>A | |
| ENST00000672502.1:c.11692G>A | ENSP00000499870.1:p.Glu3898Lys | |
| ENST00000672684.1:c.5275G>A | ENSP00000499943.1:p.Glu1759Lys | |
| ENST00000672696.1:c.5469+208G>A | ENSP00000499828.1:n.5469+208G>A | |
| ENST00000672731.1:c.5253+208G>A | ENSP00000500908.1:n.5253+208G>A | |
| ENST00000672759.1:c.5251G>A | ENSP00000499881.1:p.Glu1751Lys | |
| ENST00000672779.1:c.5581G>A | ENSP00000499869.1:p.Glu1861Lys | |
| ENST00000672793.1:c.5467G>A | ENSP00000500150.1:p.Glu1823Lys | |
| ENST00000672830.1:c.11728G>A | ENSP00000500222.1:p.Glu3910Lys | |
| ENST00000672854.1:c.5338G>A | ENSP00000500311.1:p.Glu1780Lys | |
| ENST00000672880.1:c.5374G>A | ENSP00000500866.1:p.Glu1792Lys | |
| ENST00000672915.1:c.2923G>A | ENSP00000500622.1:p.Glu975Lys | |
| ENST00000672930.1:c.11532+208G>A | ENSP00000499913.1:n.11532+208G>A | |
| ENST00000672934.1:c.11530G>A | ENSP00000500645.1:p.Glu3844Lys | |
| ENST00000672955.1:c.5350G>A | ENSP00000500527.1:p.Glu1784Lys | |
| ENST00000672965.1:c.5410G>A | ENSP00000499891.1:p.Glu1804Lys | |
| ENST00000672986.1:c.4954G>A | ENSP00000499967.1:p.Glu1652Lys | |
| ENST00000672990.1:c.5410G>A | ENSP00000500275.1:p.Glu1804Lys | |
| ENST00000673044.1:c.5292+3576G>A | ENSP00000500933.1:n.5292+3576G>A | |
| ENST00000673048.1:c.3085G>A | ENSP00000500832.1:p.Glu1029Lys | |
| ENST00000673109.1:c.11506G>A | ENSP00000500265.1:p.Glu3836Lys | |
| ENST00000673231.1:c.3100G>A | ENSP00000500111.1:p.Glu1034Lys | |
| ENST00000673240.1:c.5581G>A | ENSP00000499996.1:p.Glu1861Lys | |
| ENST00000673255.1:c.5374G>A | ENSP00000500423.1:p.Glu1792Lys | |
| ENST00000673298.1:c.11629G>A | ENSP00000500245.1:p.Glu3877Lys | |
| ENST00000673334.1:c.11448+3576G>A | ENSP00000500854.1:n.11448+3576G>A | |
| ENST00000673353.1:c.3064G>A | ENSP00000500007.1:p.Glu1022Lys | |
| ENST00000673363.1:c.11737G>A | ENSP00000500539.1:p.Glu3913Lys | |
| ENST00000673430.1:c.5467G>A | ENSP00000500269.1:p.Glu1823Lys | |
| ENST00000673453.1:c.5298+208G>A | ENSP00000500112.1:n.5298+208G>A | |
| ENST00000673536.1:c.5044G>A | ENSP00000500524.1:p.Glu1682Lys | |
| ENST00000673538.1:c.*1029G>A | ENSP00000500842.1:n.*1029G>A | |
| ENST00000673546.1:c.5311G>A | ENSP00000500843.1:p.Glu1771Lys | |
| ENST00000673555.1:c.11625+208G>A | ENSP00000500947.1:n.11625+208G>A | |
| ENST00000673573.1:c.11566G>A | ENSP00000500883.1:p.Glu3856Lys | |
| ENST00000264366.10:c.11692G>A | ENSP00000264366.6:p.Glu3898Lys | |
| ENST00000357077.8:c.11791G>A | ENSP00000349588.4:p.Glu3931Lys | |
| ENST00000394537.7:c.5536G>A | ENSP00000378044.3:p.Glu1846Lys | |
| ENST00000505342.5:c.2821G>A | ENSP00000422498.1:p.Glu941Lys | |
| ENST00000506344.5:c.65G>A | ||
| ENST00000506722.5:c.5509G>A | ENSP00000421067.1:p.Glu1837Lys | |
| ENST00000509550.5:c.3064G>A | ENSP00000426944.1:p.Glu1022Lys | |
| ENST00000510275.6:c.1585G>A | ENSP00000421023.2:p.Glu529Lys | |
| ENST00000514167.1:c.23G>A | ||
| ENST00000514960.5:c.2633G>A | ||
| ENST00000612754.1:c.*3152G>A | ENSP00000482888.1:n.*3152G>A | |
| NM_001127493.1:c.5509G>A , LRG_327t2:c.5509G>A | NP_001120965.1:p.Glu1837Lys | |
| NM_001148.4:c.11791G>A , LRG_327t1:c.11791G>A | NP_001139.3:p.Glu3931Lys | |
| NM_020977.3:c.5536G>A | NP_066187.2:p.Glu1846Lys | |
| XM_005262942.3:c.11917G>A | XP_005262999.1:p.Glu3973Lys | |
| XM_005262945.1:c.11692G>A | XP_005263002.1:p.Glu3898Lys | |
| XM_005262948.3:c.5533G>A | XP_005263005.1:p.Glu1845Lys | |
| XM_006714188.2:c.11971G>A | XP_006714251.1:p.Glu3991Lys | |
| XM_006714189.2:c.11935G>A | XP_006714252.1:p.Glu3979Lys | |
| XM_006714190.2:c.5683G>A | XP_006714253.1:p.Glu1895Lys | |
| XM_006714191.2:c.5623G>A | XP_006714254.1:p.Glu1875Lys | |
| XM_006714192.2:c.5647G>A | XP_006714255.1:p.Glu1883Lys | |
| XM_006714193.2:c.5623G>A | XP_006714256.1:p.Glu1875Lys | |
| XM_006714194.2:c.11911G>A | XP_006714257.1:p.Glu3971Lys | |
| XM_011531891.1:c.11956G>A | XP_011530193.1:p.Glu3986Lys | |
| NM_001127493.2:c.5509G>A | NP_001120965.1:p.Glu1837Lys | |
| NM_001148.5:c.11791G>A | NP_001139.3:p.Glu3931Lys | |
| NM_001354225.1:c.5548G>A | NP_001341154.1:p.Glu1850Lys | |
| NM_001354228.1:c.5530G>A | NP_001341157.1:p.Glu1844Lys | |
| NM_001354230.1:c.5515G>A | NP_001341159.1:p.Glu1839Lys | |
| NM_001354231.1:c.5671G>A | NP_001341160.1:p.Glu1891Lys | |
| NM_001354232.1:c.5665G>A | NP_001341161.1:p.Glu1889Lys | |
| NM_001354235.1:c.5626G>A | NP_001341164.1:p.Glu1876Lys | |
| NM_001354236.1:c.5434G>A | NP_001341165.1:p.Glu1812Lys | |
| NM_001354237.1:c.5614G>A | NP_001341166.1:p.Glu1872Lys | |
| NM_001354239.1:c.5599G>A | NP_001341168.1:p.Glu1867Lys | |
| NM_001354240.1:c.5581G>A | NP_001341169.1:p.Glu1861Lys | |
| NM_001354241.1:c.5581G>A | NP_001341170.1:p.Glu1861Lys | |
| NM_001354242.1:c.5578G>A | NP_001341171.1:p.Glu1860Lys | |
| NM_001354243.1:c.5566G>A | NP_001341172.1:p.Glu1856Lys | |
| NM_001354244.1:c.5563G>A | NP_001341173.1:p.Glu1855Lys | |
| NM_001354245.1:c.5374G>A | NP_001341174.1:p.Glu1792Lys | |
| NM_001354246.1:c.5533G>A | NP_001341175.1:p.Glu1845Lys | |
| NM_001354249.1:c.5350G>A | NP_001341178.1:p.Glu1784Lys | |
| NM_001354252.1:c.5506G>A | NP_001341181.1:p.Glu1836Lys | |
| NM_001354253.1:c.5311G>A | NP_001341182.1:p.Glu1771Lys | |
| NM_001354254.1:c.5485G>A | NP_001341183.1:p.Glu1829Lys | |
| NM_001354255.1:c.5473G>A | NP_001341184.1:p.Glu1825Lys | |
| NM_001354256.1:c.5470G>A | NP_001341185.1:p.Glu1824Lys | |
| NM_001354257.1:c.5275G>A | NP_001341186.1:p.Glu1759Lys | |
| NM_001354258.1:c.5437G>A | NP_001341187.1:p.Glu1813Lys | |
| NM_001354260.1:c.5251G>A | NP_001341189.1:p.Glu1751Lys | |
| NM_001354261.1:c.5395G>A | NP_001341190.1:p.Glu1799Lys | |
| NM_001354262.1:c.5374G>A | NP_001341191.1:p.Glu1792Lys | |
| NM_001354264.1:c.5371G>A | NP_001341193.1:p.Glu1791Lys | |
| NM_001354265.1:c.5436+208G>A | NP_001341194.1:n.5436+208G>A | |
| NM_001354266.1:c.5350G>A | NP_001341195.1:p.Glu1784Lys | |
| NM_001354267.1:c.5350G>A | NP_001341196.1:p.Glu1784Lys | |
| NM_001354268.1:c.5338G>A | NP_001341197.1:p.Glu1780Lys | |
| NM_001354269.1:c.5323G>A | NP_001341198.1:p.Glu1775Lys | |
| NM_001354270.1:c.5311G>A | NP_001341199.1:p.Glu1771Lys | |
| NM_001354271.1:c.5251G>A | NP_001341200.1:p.Glu1751Lys | |
| NM_001354272.1:c.5310+208G>A | NP_001341201.1:n.5310+208G>A | |
| NM_001354273.1:c.5236G>A | NP_001341202.1:p.Glu1746Lys | |
| NM_001354274.1:c.5298+208G>A | NP_001341203.1:n.5298+208G>A | |
| NM_001354275.1:c.5277+208G>A | NP_001341204.1:n.5277+208G>A | |
| NM_001354276.1:c.5253+208G>A | NP_001341205.1:n.5253+208G>A | |
| NM_001354277.1:c.5055+208G>A | NP_001341206.1:n.5055+208G>A | |
| NM_001354278.1:c.3064G>A | NP_001341207.1:p.Glu1022Lys | |
| NM_001354279.1:c.3100G>A | NP_001341208.1:p.Glu1034Lys | |
| NM_001354280.1:c.3085G>A | NP_001341209.1:p.Glu1029Lys | |
| NM_001354281.1:c.3064G>A | NP_001341210.1:p.Glu1022Lys | |
| NM_001354282.1:c.3003+208G>A | NP_001341211.1:n.3003+208G>A | |
| NM_020977.4:c.5536G>A | NP_066187.2:p.Glu1846Lys | |
| XM_005262945.3:c.11692G>A | XP_005263002.1:p.Glu3898Lys | |
| XM_017008067.1:c.12025G>A | XP_016863556.1:p.Glu4009Lys | |
| XM_017008069.1:c.12001G>A | XP_016863558.1:p.Glu4001Lys | |
| XM_017008071.2:c.11911G>A | XP_016863560.1:p.Glu3971Lys | |
| XM_017008072.2:c.11887G>A | XP_016863561.1:p.Glu3963Lys | |
| XM_017008073.2:c.11884G>A | XP_016863562.1:p.Glu3962Lys | |
| XM_017008074.2:c.11857G>A | XP_016863563.1:p.Glu3953Lys | |
| XM_017008075.2:c.11821G>A | XP_016863564.1:p.Glu3941Lys | |
| XM_017008076.2:c.11791G>A | XP_016863565.1:p.Glu3931Lys | |
| XM_017008077.2:c.11698G>A | XP_016863566.1:p.Glu3900Lys | |
| XM_017008078.2:c.5536G>A | XP_016863567.1:p.Glu1846Lys | |
| XM_017008080.2:c.5386G>A | XP_016863569.1:p.Glu1796Lys | |
| XM_024454016.1:c.11920G>A | XP_024309784.1:p.Glu3974Lys | |
| XM_024454017.1:c.5665G>A | XP_024309785.1:p.Glu1889Lys | |
| XM_024454018.1:c.5530G>A | XP_024309786.1:p.Glu1844Lys | |
| XM_024454019.1:c.5515G>A | XP_024309787.1:p.Glu1839Lys | |
| XM_024454020.1:c.5437G>A | XP_024309788.1:p.Glu1813Lys | |
| XM_024454021.1:c.5434G>A | XP_024309789.1:p.Glu1812Lys | |
| XM_024454022.1:c.5374G>A | XP_024309790.1:p.Glu1792Lys | |
| XM_024454023.1:c.5236G>A | XP_024309791.1:p.Glu1746Lys | |
| NM_001148.6:c.11791G>A MANE Select | NP_001139.3:p.Glu3931Lys | |
| NM_001127493.3:c.5509G>A | NP_001120965.1:p.Glu1837Lys | |
| NM_001354225.2:c.5548G>A | NP_001341154.1:p.Glu1850Lys | |
| NM_001354228.2:c.5530G>A | NP_001341157.1:p.Glu1844Lys | |
| NM_001354230.2:c.5515G>A | NP_001341159.1:p.Glu1839Lys | |
| NM_001354231.2:c.5671G>A | NP_001341160.1:p.Glu1891Lys | |
| NM_001354232.2:c.5665G>A | NP_001341161.1:p.Glu1889Lys | |
| NM_001354235.2:c.5626G>A | NP_001341164.1:p.Glu1876Lys | |
| NM_001354236.2:c.5434G>A | NP_001341165.1:p.Glu1812Lys | |
| NM_001354237.2:c.5614G>A | NP_001341166.1:p.Glu1872Lys | |
| NM_001354239.2:c.5599G>A | NP_001341168.1:p.Glu1867Lys | |
| NM_001354240.2:c.5581G>A | NP_001341169.1:p.Glu1861Lys | |
| NM_001354241.2:c.5581G>A | NP_001341170.1:p.Glu1861Lys | |
| NM_001354242.2:c.5578G>A | NP_001341171.1:p.Glu1860Lys | |
| NM_001354243.2:c.5566G>A | NP_001341172.1:p.Glu1856Lys | |
| NM_001354244.2:c.5563G>A | NP_001341173.1:p.Glu1855Lys | |
| NM_001354245.2:c.5374G>A | NP_001341174.1:p.Glu1792Lys | |
| NM_001354246.2:c.5533G>A | NP_001341175.1:p.Glu1845Lys | |
| NM_001354249.2:c.5350G>A | NP_001341178.1:p.Glu1784Lys | |
| NM_001354252.2:c.5506G>A | NP_001341181.1:p.Glu1836Lys | |
| NM_001354253.2:c.5311G>A | NP_001341182.1:p.Glu1771Lys | |
| NM_001354254.2:c.5485G>A | NP_001341183.1:p.Glu1829Lys | |
| NM_001354255.2:c.5473G>A | NP_001341184.1:p.Glu1825Lys | |
| NM_001354256.2:c.5470G>A | NP_001341185.1:p.Glu1824Lys | |
| NM_001354257.2:c.5275G>A | NP_001341186.1:p.Glu1759Lys | |
| NM_001354258.2:c.5437G>A | NP_001341187.1:p.Glu1813Lys | |
| NM_001354260.2:c.5251G>A | NP_001341189.1:p.Glu1751Lys | |
| NM_001354261.2:c.5395G>A | NP_001341190.1:p.Glu1799Lys | |
| NM_001354262.2:c.5374G>A | NP_001341191.1:p.Glu1792Lys | |
| NM_001354264.2:c.5371G>A | NP_001341193.1:p.Glu1791Lys | |
| NM_001354265.2:c.5436+208G>A | NP_001341194.1:n.5436+208G>A | |
| NM_001354266.2:c.5350G>A | NP_001341195.1:p.Glu1784Lys | |
| NM_001354267.2:c.5350G>A | NP_001341196.1:p.Glu1784Lys | |
| NM_001354268.2:c.5338G>A | NP_001341197.1:p.Glu1780Lys | |
| NM_001354269.3:c.5323G>A | NP_001341198.1:p.Glu1775Lys | |
| NM_001354270.2:c.5311G>A | NP_001341199.1:p.Glu1771Lys | |
| NM_001354271.2:c.5251G>A | NP_001341200.1:p.Glu1751Lys | |
| NM_001354272.2:c.5310+208G>A | NP_001341201.1:n.5310+208G>A | |
| NM_001354273.2:c.5236G>A | NP_001341202.1:p.Glu1746Lys | |
| NM_001354274.2:c.5298+208G>A | NP_001341203.1:n.5298+208G>A | |
| NM_001354275.2:c.5277+208G>A | NP_001341204.1:n.5277+208G>A | |
| NM_001354276.2:c.5253+208G>A | NP_001341205.1:n.5253+208G>A | |
| NM_001354277.2:c.5055+208G>A | NP_001341206.1:n.5055+208G>A | |
| NM_001354278.2:c.3064G>A | NP_001341207.1:p.Glu1022Lys | |
| NM_001354279.2:c.3100G>A | NP_001341208.1:p.Glu1034Lys | |
| NM_001354280.2:c.3085G>A | NP_001341209.1:p.Glu1029Lys | |
| NM_001354281.2:c.3064G>A | NP_001341210.1:p.Glu1022Lys | |
| NM_001354282.2:c.3003+208G>A | NP_001341211.1:n.3003+208G>A | |
| NM_001386142.1:c.11557G>A | NP_001373071.1:p.Glu3853Lys | |
| NM_001386143.1:c.5566G>A | NP_001373072.1:p.Glu1856Lys | |
| NM_001386144.1:c.5674G>A | NP_001373073.1:p.Glu1892Lys | |
| NM_001386146.1:c.5410G>A | NP_001373075.1:p.Glu1804Lys | |
| NM_001386147.1:c.5362G>A | NP_001373076.1:p.Glu1788Lys | |
| NM_001386148.2:c.5521G>A | NP_001373077.1:p.Glu1841Lys | |
| NM_001386149.1:c.5317G>A | NP_001373078.1:p.Glu1773Lys | |
| NM_001386150.1:c.5410G>A | NP_001373079.1:p.Glu1804Lys | |
| NM_001386151.1:c.5344G>A | NP_001373080.1:p.Glu1782Lys | |
| NM_001386152.1:c.5412+3576G>A | NP_001373081.1:n.5412+3576G>A | |
| NM_001386153.1:c.5317G>A | NP_001373082.1:p.Glu1773Lys | |
| NM_001386154.1:c.5302G>A | NP_001373083.1:p.Glu1768Lys | |
| NM_001386156.1:c.5275G>A | NP_001373085.1:p.Glu1759Lys | |
| NM_001386157.1:c.5152G>A | NP_001373086.1:p.Glu1718Lys | |
| NM_001386158.1:c.5053G>A | NP_001373087.1:p.Glu1685Lys | |
| NM_001386160.1:c.5380G>A | NP_001373089.1:p.Glu1794Lys | |
| NM_001386161.1:c.5470G>A | NP_001373090.1:p.Glu1824Lys | |
| NM_001386162.1:c.5253+208G>A | NP_001373091.1:n.5253+208G>A | |
| NM_001386166.1:c.8191G>A | NP_001373095.1:p.Glu2731Lys | |
| NM_001386167.1:c.2029G>A | NP_001373096.1:p.Glu677Lys | |
| NM_001386174.1:c.12025G>A | NP_001373103.1:p.Glu4009Lys | |
| NM_001386175.1:c.12001G>A | NP_001373104.1:p.Glu4001Lys | |
| NM_001386186.2:c.5521G>A | NP_001373115.1:p.Glu1841Lys | |
| NM_001386187.2:c.5401G>A | NP_001373116.1:p.Glu1801Lys | |
| NM_020977.5:c.5536G>A | NP_066187.2:p.Glu1846Lys |