Linked Data
ClinVar Variation Id:
516423
dbSNP Id:
rs372560419
gnomAD v2:
4-114095567-C-T
gnomAD v3:
4-113174411-C-T
gnomAD v4:
4-113174411-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.113174411C>T , CM000666.2:g.113174411C>T | GRCh38 |
| NC_000004.11:g.114095567C>T , CM000666.1:g.114095567C>T | GRCh37 |
| NC_000004.10:g.114315016C>T | NCBI36 |
| NG_009006.2:g.361329C>T , LRG_327:g.361329C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000506344.6:c.136-5C>T | ENSP00000422888.2:n.136-5C>T | |
| ENST00000705785.1:c.130-5C>T | ENSP00000516169.1:n.130-5C>T | |
| ENST00000682189.1:n.222-5C>T | ||
| ENST00000682211.1:n.292-5C>T | ||
| ENST00000682346.1:n.192-5C>T | ||
| ENST00000682678.1:n.526-5C>T | ||
| ENST00000682900.1:n.433-5C>T | ||
| ENST00000683070.1:n.221-5C>T | ||
| ENST00000683089.1:n.433-5C>T | ||
| ENST00000683310.1:n.221-5C>T | ||
| ENST00000683360.1:n.222-5C>T | ||
| ENST00000683568.1:n.155-5C>T | ||
| ENST00000683595.1:n.97-5C>T | ||
| ENST00000684681.1:n.215-5C>T | ||
| ENST00000684727.1:n.119-5C>T | ||
| ENST00000357077.9:c.85-5C>T MANE Select | ENSP00000349588.4:n.85-5C>T | |
| ENST00000503423.6:c.22-5C>T | ENSP00000421011.2:n.22-5C>T | |
| ENST00000671704.1:c.22-5C>T | ENSP00000500926.1:n.22-5C>T | |
| ENST00000671727.1:c.85-5C>T | ENSP00000500102.1:n.85-5C>T | |
| ENST00000671756.1:c.22-5C>T | ENSP00000500712.1:n.22-5C>T | |
| ENST00000671762.1:c.85-5C>T | ENSP00000500954.1:n.85-5C>T | |
| ENST00000671793.1:c.22-5C>T | ENSP00000499928.1:n.22-5C>T | |
| ENST00000671809.1:c.22-5C>T | ENSP00000500872.1:n.22-5C>T | |
| ENST00000671825.1:c.22-5C>T | ENSP00000500459.1:n.22-5C>T | |
| ENST00000671854.1:c.22-5C>T | ENSP00000500833.1:n.22-5C>T | |
| ENST00000671863.1:c.22-5C>T | ENSP00000500855.1:n.22-5C>T | |
| ENST00000671893.1:c.22-5C>T | ENSP00000499986.1:n.22-5C>T | |
| ENST00000671906.1:c.22-5C>T | ENSP00000499953.1:n.22-5C>T | |
| ENST00000671951.1:c.22-5C>T | ENSP00000500528.1:n.22-5C>T | |
| ENST00000671971.1:c.130-5C>T | ENSP00000499832.1:n.130-5C>T | |
| ENST00000672045.1:c.85-5C>T | ENSP00000499959.1:n.85-5C>T | |
| ENST00000672068.1:c.22-5C>T | ENSP00000499902.1:n.22-5C>T | |
| ENST00000672088.1:c.22-5C>T | ENSP00000499837.1:n.22-5C>T | |
| ENST00000672090.1:c.22-5C>T | ENSP00000500540.1:n.22-5C>T | |
| ENST00000672177.1:c.22-5C>T | ENSP00000500918.1:n.22-5C>T | |
| ENST00000672209.1:c.22-5C>T | ENSP00000499982.1:n.22-5C>T | |
| ENST00000672221.1:c.22-5C>T | ENSP00000500473.1:n.22-5C>T | |
| ENST00000672240.1:c.130-5C>T | ENSP00000500548.1:n.130-5C>T | |
| ENST00000672246.1:c.22-5C>T | ENSP00000499990.1:n.22-5C>T | |
| ENST00000672251.1:c.85-5C>T | ENSP00000500580.1:n.85-5C>T | |
| ENST00000672312.1:c.22-5C>T | ENSP00000500378.1:n.22-5C>T | |
| ENST00000672315.1:c.22-5C>T | ENSP00000500780.1:n.22-5C>T | |
| ENST00000672350.1:c.22-5C>T | ENSP00000500420.1:n.22-5C>T | |
| ENST00000672356.1:c.22-5C>T | ENSP00000500544.1:n.22-5C>T | |
| ENST00000672362.1:c.22-5C>T | ENSP00000500522.1:n.22-5C>T | |
| ENST00000672366.1:c.85-5C>T | ENSP00000500937.1:n.85-5C>T | |
| ENST00000672402.1:c.22-5C>T | ENSP00000500881.1:n.22-5C>T | |
| ENST00000672502.1:c.85-5C>T | ENSP00000499870.1:n.85-5C>T | |
| ENST00000672684.1:c.22-5C>T | ENSP00000499943.1:n.22-5C>T | |
| ENST00000672696.1:c.22-5C>T | ENSP00000499828.1:n.22-5C>T | |
| ENST00000672731.1:c.22-5C>T | ENSP00000500908.1:n.22-5C>T | |
| ENST00000672759.1:c.22-5C>T | ENSP00000499881.1:n.22-5C>T | |
| ENST00000672779.1:c.130-5C>T | ENSP00000499869.1:n.130-5C>T | |
| ENST00000672793.1:c.22-5C>T | ENSP00000500150.1:n.22-5C>T | |
| ENST00000672830.1:c.22-5C>T | ENSP00000500222.1:n.22-5C>T | |
| ENST00000672854.1:c.85-5C>T | ENSP00000500311.1:n.85-5C>T | |
| ENST00000672880.1:c.22-5C>T | ENSP00000500866.1:n.22-5C>T | |
| ENST00000672930.1:c.22-5C>T | ENSP00000499913.1:n.22-5C>T | |
| ENST00000672934.1:c.22-5C>T | ENSP00000500645.1:n.22-5C>T | |
| ENST00000672955.1:c.22-5C>T | ENSP00000500527.1:n.22-5C>T | |
| ENST00000672965.1:c.22-5C>T | ENSP00000499891.1:n.22-5C>T | |
| ENST00000672986.1:c.22-5C>T | ENSP00000499967.1:n.22-5C>T | |
| ENST00000672990.1:c.22-5C>T | ENSP00000500275.1:n.22-5C>T | |
| ENST00000673044.1:c.22-5C>T | ENSP00000500933.1:n.22-5C>T | |
| ENST00000673109.1:c.22-5C>T | ENSP00000500265.1:n.22-5C>T | |
| ENST00000673240.1:c.130-5C>T | ENSP00000499996.1:n.130-5C>T | |
| ENST00000673255.1:c.22-5C>T | ENSP00000500423.1:n.22-5C>T | |
| ENST00000673298.1:c.22-5C>T | ENSP00000500245.1:n.22-5C>T | |
| ENST00000673334.1:c.22-5C>T | ENSP00000500854.1:n.22-5C>T | |
| ENST00000673363.1:c.130-5C>T | ENSP00000500539.1:n.130-5C>T | |
| ENST00000673430.1:c.22-5C>T | ENSP00000500269.1:n.22-5C>T | |
| ENST00000673453.1:c.22-5C>T | ENSP00000500112.1:n.22-5C>T | |
| ENST00000673536.1:c.-321-5C>T | ENSP00000500524.1:n.-321-5C>T | |
| ENST00000673546.1:c.22-5C>T | ENSP00000500843.1:n.22-5C>T | |
| ENST00000673555.1:c.22-5C>T | ENSP00000500947.1:n.22-5C>T | |
| ENST00000673573.1:c.22-5C>T | ENSP00000500883.1:n.22-5C>T | |
| ENST00000673778.1:c.58-5C>T | ENSP00000501302.1:n.58-5C>T | |
| ENST00000264366.10:c.85-5C>T | ENSP00000264366.6:n.85-5C>T | |
| ENST00000357077.8:c.85-5C>T | ENSP00000349588.4:n.85-5C>T | |
| ENST00000394537.7:c.85-5C>T | ENSP00000378044.3:n.85-5C>T | |
| ENST00000503271.5:c.22-5C>T | ENSP00000423799.1:n.22-5C>T | |
| ENST00000503423.5:c.22-5C>T | ENSP00000421011.1:n.22-5C>T | |
| ENST00000504454.5:c.130-5C>T | ENSP00000424722.1:n.130-5C>T | |
| ENST00000506722.5:c.22-5C>T | ENSP00000421067.1:n.22-5C>T | |
| ENST00000508613.5:c.130-5C>T | ENSP00000422900.1:n.130-5C>T | |
| ENST00000511380.1:c.136-5C>T | ENSP00000425775.1:n.136-5C>T | |
| ENST00000515034.1:c.-321-5C>T | ENSP00000421059.1:n.-321-5C>T | |
| NM_001127493.1:c.22-5C>T , LRG_327t2:c.22-5C>T | NP_001120965.1:n.22-5C>T | |
| NM_001148.4:c.85-5C>T , LRG_327t1:c.85-5C>T | NP_001139.3:n.85-5C>T | |
| NM_020977.3:c.85-5C>T | NP_066187.2:n.85-5C>T | |
| XM_005262942.3:c.181-5C>T | XP_005262999.1:n.181-5C>T | |
| XM_005262945.1:c.85-5C>T | XP_005263002.1:n.85-5C>T | |
| XM_005262948.3:c.181-5C>T | XP_005263005.1:n.181-5C>T | |
| XM_006714188.2:c.181-5C>T | XP_006714251.1:n.181-5C>T | |
| XM_006714189.2:c.181-5C>T | XP_006714252.1:n.181-5C>T | |
| XM_006714190.2:c.181-5C>T | XP_006714253.1:n.181-5C>T | |
| XM_006714191.2:c.181-5C>T | XP_006714254.1:n.181-5C>T | |
| XM_006714192.2:c.181-5C>T | XP_006714255.1:n.181-5C>T | |
| XM_006714193.2:c.181-5C>T | XP_006714256.1:n.181-5C>T | |
| XM_006714194.2:c.181-5C>T | XP_006714257.1:n.181-5C>T | |
| XM_011531891.1:c.67-5C>T | XP_011530193.1:n.67-5C>T | |
| NM_001127493.2:c.22-5C>T | NP_001120965.1:n.22-5C>T | |
| NM_001148.5:c.85-5C>T | NP_001139.3:n.85-5C>T | |
| NM_001354225.1:c.85-5C>T | NP_001341154.1:n.85-5C>T | |
| NM_001354228.1:c.85-5C>T | NP_001341157.1:n.85-5C>T | |
| NM_001354230.1:c.130-5C>T | NP_001341159.1:n.130-5C>T | |
| NM_001354231.1:c.130-5C>T | NP_001341160.1:n.130-5C>T | |
| NM_001354232.1:c.85-5C>T | NP_001341161.1:n.85-5C>T | |
| NM_001354235.1:c.85-5C>T | NP_001341164.1:n.85-5C>T | |
| NM_001354236.1:c.85-5C>T | NP_001341165.1:n.85-5C>T | |
| NM_001354237.1:c.130-5C>T | NP_001341166.1:n.130-5C>T | |
| NM_001354239.1:c.22-5C>T | NP_001341168.1:n.22-5C>T | |
| NM_001354240.1:c.130-5C>T | NP_001341169.1:n.130-5C>T | |
| NM_001354241.1:c.130-5C>T | NP_001341170.1:n.130-5C>T | |
| NM_001354242.1:c.130-5C>T | NP_001341171.1:n.130-5C>T | |
| NM_001354243.1:c.22-5C>T | NP_001341172.1:n.22-5C>T | |
| NM_001354244.1:c.22-5C>T | NP_001341173.1:n.22-5C>T | |
| NM_001354245.1:c.85-5C>T | NP_001341174.1:n.85-5C>T | |
| NM_001354246.1:c.85-5C>T | NP_001341175.1:n.85-5C>T | |
| NM_001354249.1:c.22-5C>T | NP_001341178.1:n.22-5C>T | |
| NM_001354252.1:c.22-5C>T | NP_001341181.1:n.22-5C>T | |
| NM_001354253.1:c.22-5C>T | NP_001341182.1:n.22-5C>T | |
| NM_001354254.1:c.22-5C>T | NP_001341183.1:n.22-5C>T | |
| NM_001354255.1:c.22-5C>T | NP_001341184.1:n.22-5C>T | |
| NM_001354256.1:c.22-5C>T | NP_001341185.1:n.22-5C>T | |
| NM_001354257.1:c.22-5C>T | NP_001341186.1:n.22-5C>T | |
| NM_001354258.1:c.85-5C>T | NP_001341187.1:n.85-5C>T | |
| NM_001354260.1:c.22-5C>T | NP_001341189.1:n.22-5C>T | |
| NM_001354261.1:c.67-5C>T | NP_001341190.1:n.67-5C>T | |
| NM_001354262.1:c.22-5C>T | NP_001341191.1:n.22-5C>T | |
| NM_001354264.1:c.22-5C>T | NP_001341193.1:n.22-5C>T | |
| NM_001354265.1:c.85-5C>T | NP_001341194.1:n.85-5C>T | |
| NM_001354266.1:c.22-5C>T | NP_001341195.1:n.22-5C>T | |
| NM_001354267.1:c.22-5C>T | NP_001341196.1:n.22-5C>T | |
| NM_001354268.1:c.85-5C>T | NP_001341197.1:n.85-5C>T | |
| NM_001354269.1:c.73-5C>T | NP_001341198.1:n.73-5C>T | |
| NM_001354270.1:c.22-5C>T | NP_001341199.1:n.22-5C>T | |
| NM_001354271.1:c.22-5C>T | NP_001341200.1:n.22-5C>T | |
| NM_001354272.1:c.22-5C>T | NP_001341201.1:n.22-5C>T | |
| NM_001354273.1:c.85-5C>T | NP_001341202.1:n.85-5C>T | |
| NM_001354274.1:c.22-5C>T | NP_001341203.1:n.22-5C>T | |
| NM_001354275.1:c.22-5C>T | NP_001341204.1:n.22-5C>T | |
| NM_001354276.1:c.22-5C>T | NP_001341205.1:n.22-5C>T | |
| NM_001354277.1:c.22-5C>T | NP_001341206.1:n.22-5C>T | |
| NM_020977.4:c.85-5C>T | NP_066187.2:n.85-5C>T | |
| XM_005262945.3:c.85-5C>T | XP_005263002.1:n.85-5C>T | |
| XM_017008067.1:c.136-5C>T | XP_016863556.1:n.136-5C>T | |
| XM_017008069.1:c.136-5C>T | XP_016863558.1:n.136-5C>T | |
| XM_017008071.2:c.22-5C>T | XP_016863560.1:n.22-5C>T | |
| XM_017008072.2:c.22-5C>T | XP_016863561.1:n.22-5C>T | |
| XM_017008073.2:c.85-5C>T | XP_016863562.1:n.85-5C>T | |
| XM_017008074.2:c.22-5C>T | XP_016863563.1:n.22-5C>T | |
| XM_017008075.2:c.22-5C>T | XP_016863564.1:n.22-5C>T | |
| XM_017008076.2:c.85-5C>T | XP_016863565.1:n.85-5C>T | |
| XM_017008077.2:c.22-5C>T | XP_016863566.1:n.22-5C>T | |
| XM_017008078.2:c.85-5C>T | XP_016863567.1:n.85-5C>T | |
| XM_017008080.2:c.22-5C>T | XP_016863569.1:n.22-5C>T | |
| XM_024454016.1:c.85-5C>T | XP_024309784.1:n.85-5C>T | |
| XM_024454017.1:c.85-5C>T | XP_024309785.1:n.85-5C>T | |
| XM_024454018.1:c.85-5C>T | XP_024309786.1:n.85-5C>T | |
| XM_024454019.1:c.130-5C>T | XP_024309787.1:n.130-5C>T | |
| XM_024454020.1:c.85-5C>T | XP_024309788.1:n.85-5C>T | |
| XM_024454021.1:c.85-5C>T | XP_024309789.1:n.85-5C>T | |
| XM_024454022.1:c.85-5C>T | XP_024309790.1:n.85-5C>T | |
| XM_024454023.1:c.85-5C>T | XP_024309791.1:n.85-5C>T | |
| NM_001148.6:c.85-5C>T MANE Select | NP_001139.3:n.85-5C>T | |
| NM_001127493.3:c.22-5C>T | NP_001120965.1:n.22-5C>T | |
| NM_001354225.2:c.85-5C>T | NP_001341154.1:n.85-5C>T | |
| NM_001354228.2:c.85-5C>T | NP_001341157.1:n.85-5C>T | |
| NM_001354230.2:c.130-5C>T | NP_001341159.1:n.130-5C>T | |
| NM_001354231.2:c.130-5C>T | NP_001341160.1:n.130-5C>T | |
| NM_001354232.2:c.85-5C>T | NP_001341161.1:n.85-5C>T | |
| NM_001354235.2:c.85-5C>T | NP_001341164.1:n.85-5C>T | |
| NM_001354236.2:c.85-5C>T | NP_001341165.1:n.85-5C>T | |
| NM_001354237.2:c.130-5C>T | NP_001341166.1:n.130-5C>T | |
| NM_001354239.2:c.22-5C>T | NP_001341168.1:n.22-5C>T | |
| NM_001354240.2:c.130-5C>T | NP_001341169.1:n.130-5C>T | |
| NM_001354241.2:c.130-5C>T | NP_001341170.1:n.130-5C>T | |
| NM_001354242.2:c.130-5C>T | NP_001341171.1:n.130-5C>T | |
| NM_001354243.2:c.22-5C>T | NP_001341172.1:n.22-5C>T | |
| NM_001354244.2:c.22-5C>T | NP_001341173.1:n.22-5C>T | |
| NM_001354245.2:c.85-5C>T | NP_001341174.1:n.85-5C>T | |
| NM_001354246.2:c.85-5C>T | NP_001341175.1:n.85-5C>T | |
| NM_001354249.2:c.22-5C>T | NP_001341178.1:n.22-5C>T | |
| NM_001354252.2:c.22-5C>T | NP_001341181.1:n.22-5C>T | |
| NM_001354253.2:c.22-5C>T | NP_001341182.1:n.22-5C>T | |
| NM_001354254.2:c.22-5C>T | NP_001341183.1:n.22-5C>T | |
| NM_001354255.2:c.22-5C>T | NP_001341184.1:n.22-5C>T | |
| NM_001354256.2:c.22-5C>T | NP_001341185.1:n.22-5C>T | |
| NM_001354257.2:c.22-5C>T | NP_001341186.1:n.22-5C>T | |
| NM_001354258.2:c.85-5C>T | NP_001341187.1:n.85-5C>T | |
| NM_001354260.2:c.22-5C>T | NP_001341189.1:n.22-5C>T | |
| NM_001354261.2:c.67-5C>T | NP_001341190.1:n.67-5C>T | |
| NM_001354262.2:c.22-5C>T | NP_001341191.1:n.22-5C>T | |
| NM_001354264.2:c.22-5C>T | NP_001341193.1:n.22-5C>T | |
| NM_001354265.2:c.85-5C>T | NP_001341194.1:n.85-5C>T | |
| NM_001354266.2:c.22-5C>T | NP_001341195.1:n.22-5C>T | |
| NM_001354267.2:c.22-5C>T | NP_001341196.1:n.22-5C>T | |
| NM_001354268.2:c.85-5C>T | NP_001341197.1:n.85-5C>T | |
| NM_001354269.3:c.73-5C>T | NP_001341198.1:n.73-5C>T | |
| NM_001354270.2:c.22-5C>T | NP_001341199.1:n.22-5C>T | |
| NM_001354271.2:c.22-5C>T | NP_001341200.1:n.22-5C>T | |
| NM_001354272.2:c.22-5C>T | NP_001341201.1:n.22-5C>T | |
| NM_001354273.2:c.85-5C>T | NP_001341202.1:n.85-5C>T | |
| NM_001354274.2:c.22-5C>T | NP_001341203.1:n.22-5C>T | |
| NM_001354275.2:c.22-5C>T | NP_001341204.1:n.22-5C>T | |
| NM_001354276.2:c.22-5C>T | NP_001341205.1:n.22-5C>T | |
| NM_001354277.2:c.22-5C>T | NP_001341206.1:n.22-5C>T | |
| NM_001386142.1:c.22-5C>T | NP_001373071.1:n.22-5C>T | |
| NM_001386143.1:c.22-5C>T | NP_001373072.1:n.22-5C>T | |
| NM_001386144.1:c.130-5C>T | NP_001373073.1:n.130-5C>T | |
| NM_001386146.1:c.22-5C>T | NP_001373075.1:n.22-5C>T | |
| NM_001386147.1:c.67-5C>T | NP_001373076.1:n.67-5C>T | |
| NM_001386148.2:c.73-5C>T | NP_001373077.1:n.73-5C>T | |
| NM_001386149.1:c.22-5C>T | NP_001373078.1:n.22-5C>T | |
| NM_001386150.1:c.22-5C>T | NP_001373079.1:n.22-5C>T | |
| NM_001386151.1:c.22-5C>T | NP_001373080.1:n.22-5C>T | |
| NM_001386152.1:c.130-5C>T | NP_001373081.1:n.130-5C>T | |
| NM_001386153.1:c.22-5C>T | NP_001373082.1:n.22-5C>T | |
| NM_001386154.1:c.22-5C>T | NP_001373083.1:n.22-5C>T | |
| NM_001386156.1:c.22-5C>T | NP_001373085.1:n.22-5C>T | |
| NM_001386157.1:c.22-5C>T | NP_001373086.1:n.22-5C>T | |
| NM_001386158.1:c.22-5C>T | NP_001373087.1:n.22-5C>T | |
| NM_001386160.1:c.67-5C>T | NP_001373089.1:n.67-5C>T | |
| NM_001386161.1:c.22-5C>T | NP_001373090.1:n.22-5C>T | |
| NM_001386162.1:c.22-5C>T | NP_001373091.1:n.22-5C>T | |
| NM_001386174.1:c.136-5C>T | NP_001373103.1:n.136-5C>T | |
| NM_001386175.1:c.136-5C>T | NP_001373104.1:n.136-5C>T | |
| NM_001386186.2:c.73-5C>T | NP_001373115.1:n.73-5C>T | |
| NM_001386187.2:c.73-5C>T | NP_001373116.1:n.73-5C>T | |
| NM_020977.5:c.85-5C>T | NP_066187.2:n.85-5C>T |