Linked Data
ClinVar Variation Id:
1997805
ClinVar RCV Id:
RCV002824189
dbSNP Id:
rs778187337
ExAC:
12:120138592 G / A
gnomAD v2:
12-120138592-G-A
gnomAD v3:
12-119700787-G-A
gnomAD v4:
12-119700787-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.119700787G>A , CM000674.2:g.119700787G>A | GRCh38 |
| NC_000012.11:g.120138592G>A , CM000674.1:g.120138592G>A | GRCh37 |
| NC_000012.10:g.118622975G>A | NCBI36 |
| NG_029792.1:g.181504C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392521.7:c.5581C>T MANE Select | ENSP00000376306.2:p.Arg1861Cys | |
| ENST00000545913.6:n.7744C>T | ||
| ENST00000676693.1:n.2907C>T | ||
| ENST00000676833.1:n.4941C>T | ||
| ENST00000676849.1:c.4198C>T | ENSP00000503214.1:p.Arg1400Cys | |
| ENST00000677438.1:c.*4687C>T | ENSP00000504095.1:n.*4687C>T | |
| ENST00000677738.1:n.2778C>T | ||
| ENST00000677742.1:n.891C>T | ||
| ENST00000677812.1:c.*4801C>T | ENSP00000504400.1:n.*4801C>T | |
| ENST00000677849.1:c.*4687C>T | ENSP00000503820.1:n.*4687C>T | |
| ENST00000677993.1:c.4186C>T | ENSP00000503765.1:p.Arg1396Cys | |
| ENST00000678087.1:c.4072C>T | ENSP00000503863.1:p.Arg1358Cys | |
| ENST00000678236.1:n.7041C>T | ||
| ENST00000678494.1:c.1227-13753C>T | ENSP00000503854.1:n.1227-13753C>T | |
| ENST00000678652.1:c.4198C>T | ENSP00000504849.1:p.Arg1400Cys | |
| ENST00000678677.1:c.3985C>T | ENSP00000503253.1:p.Arg1329Cys | |
| ENST00000679120.1:c.*3588C>T | ENSP00000502891.1:n.*3588C>T | |
| ENST00000679249.1:c.4198C>T | ENSP00000503976.1:p.Arg1400Cys | |
| ENST00000679285.1:n.3077C>T | ||
| ENST00000261833.11:c.5455C>T | ENSP00000261833.7:p.Arg1819Cys | |
| ENST00000392520.2:c.4293C>T | ||
| ENST00000392521.6:c.5581C>T | ENSP00000376306.2:p.Arg1861Cys | |
| ENST00000537607.5:n.4308C>T | ||
| ENST00000545913.5:n.5452C>T | ||
| ENST00000612548.4:c.1442-12723C>T | ENSP00000482318.1:n.1442-12723C>T | |
| NM_001206999.1:c.5581C>T | NP_001193928.1:p.Arg1861Cys | |
| NM_007174.2:c.5455C>T | NP_009105.1:p.Arg1819Cys | |
| XM_006719206.2:c.5536C>T | XP_006719269.1:p.Arg1846Cys | |
| XM_011537783.1:c.5626C>T | XP_011536085.1:p.Arg1876Cys | |
| XM_011537784.1:c.5626C>T | XP_011536086.1:p.Arg1876Cys | |
| XM_011537785.1:c.5581C>T | XP_011536087.1:p.Arg1861Cys | |
| XM_011537786.1:c.5500C>T | XP_011536088.1:p.Arg1834Cys | |
| XM_011537787.1:c.5410C>T | XP_011536089.1:p.Arg1804Cys | |
| XM_011537788.1:c.5410C>T | XP_011536090.1:p.Arg1804Cys | |
| XM_011537789.1:c.4288C>T | XP_011536091.1:p.Arg1430Cys | |
| XM_011537790.1:c.4288C>T | XP_011536092.1:p.Arg1430Cys | |
| XM_011537791.1:c.4228C>T | XP_011536093.1:p.Arg1410Cys | |
| XM_011537792.1:c.4012C>T | XP_011536094.1:p.Arg1338Cys | |
| XM_011537790.2:c.4288C>T | XP_011536092.1:p.Arg1430Cys | |
| XM_011537791.2:c.4228C>T | XP_011536093.1:p.Arg1410Cys | |
| XM_011537792.2:c.4012C>T | XP_011536094.1:p.Arg1338Cys | |
| XM_017018735.1:c.5581C>T | XP_016874224.1:p.Arg1861Cys | |
| XM_017018736.1:c.5581C>T | XP_016874225.1:p.Arg1861Cys | |
| XM_017018737.1:c.5536C>T | XP_016874226.1:p.Arg1846Cys | |
| XM_017018738.1:c.4102C>T | XP_016874227.1:p.Arg1368Cys | |
| XM_017018739.1:c.4012C>T | XP_016874228.1:p.Arg1338Cys | |
| NM_001206999.2:c.5581C>T MANE Select | NP_001193928.1:p.Arg1861Cys | |
| NM_007174.3:c.5455C>T | NP_009105.1:p.Arg1819Cys |