Linked Data
ClinVar Variation Id:
427939
dbSNP Id:
rs753432312
ExAC:
2:232141350 C / T
gnomAD v2:
2-232141350-C-T
gnomAD v4:
2-231276637-C-T
PubMed:
PMID:28625504
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.231276637C>T , CM000664.2:g.231276637C>T | GRCh38 |
| NC_000002.11:g.232141350C>T , CM000664.1:g.232141350C>T | GRCh37 |
| NC_000002.10:g.231849594C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000428662.6:c.217C>T | ENSP00000388527.2:p.Arg73Cys | |
| ENST00000436339.6:c.1336C>T | ENSP00000392086.2:p.Arg446Cys | |
| ENST00000446447.6:n.386C>T | ||
| ENST00000469789.2:n.1096C>T | ||
| ENST00000682002.1:c.1237C>T | ENSP00000507152.1:p.Arg413Cys | |
| ENST00000682030.1:c.1333C>T | ENSP00000508117.1:p.Arg445Cys | |
| ENST00000682100.1:c.1333C>T | ENSP00000507066.1:p.Arg445Cys | |
| ENST00000682264.1:c.*380C>T | ENSP00000507212.1:n.*380C>T | |
| ENST00000682334.1:c.1336C>T | ENSP00000507763.1:p.Arg446Cys | |
| ENST00000682367.1:c.1333C>T | ENSP00000507235.1:p.Arg445Cys | |
| ENST00000683040.1:c.1336C>T | ENSP00000507817.1:p.Arg446Cys | |
| ENST00000683063.1:c.1210C>T | ENSP00000507407.1:p.Arg404Cys | |
| ENST00000683107.1:n.3069C>T | ||
| ENST00000683112.1:c.1357C>T | ENSP00000507357.1:p.Arg453Cys | |
| ENST00000683165.1:n.1482C>T | ||
| ENST00000683271.1:c.1237C>T | ENSP00000507513.1:p.Arg413Cys | |
| ENST00000683275.1:c.1336C>T | ENSP00000506823.1:p.Arg446Cys | |
| ENST00000683321.1:c.1336C>T | ENSP00000508154.1:p.Arg446Cys | |
| ENST00000683520.1:n.924C>T | ||
| ENST00000683553.1:c.1189C>T | ENSP00000506860.1:p.Arg397Cys | |
| ENST00000683575.1:c.1336C>T | ENSP00000507743.1:p.Arg446Cys | |
| ENST00000683629.1:c.1336C>T | ENSP00000507960.1:p.Arg446Cys | |
| ENST00000683702.1:c.1336C>T | ENSP00000507686.1:p.Arg446Cys | |
| ENST00000683814.1:n.1647C>T | ||
| ENST00000683966.1:c.1333C>T | ENSP00000507325.1:p.Arg445Cys | |
| ENST00000684011.1:n.1441C>T | ||
| ENST00000684051.1:c.1336C>T | ENSP00000507854.1:p.Arg446Cys | |
| ENST00000684224.1:n.890C>T | ||
| ENST00000684368.1:c.*2537C>T | ENSP00000508353.1:n.*2537C>T | |
| ENST00000684432.1:c.1336C>T | ENSP00000508405.1:p.Arg446Cys | |
| ENST00000684565.1:c.1336C>T | ENSP00000507599.1:p.Arg446Cys | |
| ENST00000684718.1:c.1336C>T | ENSP00000507543.1:p.Arg446Cys | |
| ENST00000611582.5:c.1336C>T MANE Select | ENSP00000484804.1:p.Arg446Cys | |
| ENST00000349938.8:c.1336C>T | ENSP00000258417.5:p.Arg446Cys | |
| ENST00000424740.5:c.444C>T | ||
| ENST00000428662.5:c.218C>T | ||
| ENST00000436339.5:c.487C>T | ENSP00000392086.1:p.Arg163Cys | |
| ENST00000446447.5:c.262C>T | ENSP00000411778.1:p.Arg88Cys | |
| ENST00000467698.5:n.357C>T | ||
| ENST00000481520.1:n.456C>T | ||
| ENST00000611582.4:c.1336C>T | ENSP00000484804.1:p.Arg446Cys | |
| ENST00000614261.4:c.1336C>T | ENSP00000484241.1:p.Arg446Cys | |
| NM_001271466.2:c.1336C>T | NP_001258395.1:p.Arg446Cys | |
| NM_001291656.1:c.1336C>T | NP_001278585.1:p.Arg446Cys | |
| NM_025139.5:c.1336C>T | NP_079415.3:p.Arg446Cys | |
| XM_011511905.1:c.1336C>T | XP_011510207.1:p.Arg446Cys | |
| XM_011511906.1:c.1336C>T | XP_011510208.1:p.Arg446Cys | |
| XM_011511907.1:c.1237C>T | XP_011510209.1:p.Arg413Cys | |
| XM_011511908.1:c.1336C>T | XP_011510210.1:p.Arg446Cys | |
| XM_011511909.1:c.1336C>T | XP_011510211.1:p.Arg446Cys | |
| XM_011511910.1:c.1336C>T | XP_011510212.1:p.Arg446Cys | |
| XM_011511911.1:c.1336C>T | XP_011510213.1:p.Arg446Cys | |
| XM_011511912.1:c.1336C>T | XP_011510214.1:p.Arg446Cys | |
| XM_011511913.1:c.1336C>T | XP_011510215.1:p.Arg446Cys | |
| XM_011511914.1:c.1336C>T | XP_011510216.1:p.Arg446Cys | |
| XM_011511915.1:c.1336C>T | XP_011510217.1:p.Arg446Cys | |
| XM_011511916.1:c.1336C>T | XP_011510218.1:p.Arg446Cys | |
| XM_011511917.1:c.1336C>T | XP_011510219.1:p.Arg446Cys | |
| XM_011511918.1:c.1336C>T | XP_011510220.1:p.Arg446Cys | |
| XM_011511919.1:c.262C>T | XP_011510221.1:p.Arg88Cys | |
| XM_011511920.1:c.1336C>T | XP_011510222.1:p.Arg446Cys | |
| XR_923031.1:n.1448C>T | ||
| XR_923032.1:n.1448C>T | ||
| NM_001271466.3:c.1336C>T | NP_001258395.1:p.Arg446Cys | |
| NM_001352754.1:c.1336C>T | NP_001339683.1:p.Arg446Cys | |
| NM_001352755.1:c.1336C>T | NP_001339684.1:p.Arg446Cys | |
| NM_001352756.1:c.1336C>T | NP_001339685.1:p.Arg446Cys | |
| NM_001352757.1:c.1237C>T | NP_001339686.1:p.Arg413Cys | |
| NM_001352758.1:c.1237C>T | NP_001339687.1:p.Arg413Cys | |
| NM_001352759.1:c.1336C>T | NP_001339688.1:p.Arg446Cys | |
| NR_148040.1:n.1530C>T | ||
| XM_011511908.2:c.1336C>T | XP_011510210.1:p.Arg446Cys | |
| XM_011511909.2:c.1336C>T | XP_011510211.1:p.Arg446Cys | |
| XM_011511913.2:c.1336C>T | XP_011510215.1:p.Arg446Cys | |
| XM_011511914.2:c.1336C>T | XP_011510216.1:p.Arg446Cys | |
| XM_011511915.2:c.1336C>T | XP_011510217.1:p.Arg446Cys | |
| XM_011511916.2:c.1336C>T | XP_011510218.1:p.Arg446Cys | |
| XM_011511919.2:c.262C>T | XP_011510221.1:p.Arg88Cys | |
| XM_017005021.1:c.1336C>T | XP_016860510.1:p.Arg446Cys | |
| XM_017005022.1:c.1336C>T | XP_016860511.1:p.Arg446Cys | |
| XM_017005024.1:c.1237C>T | XP_016860513.1:p.Arg413Cys | |
| XM_017005025.1:c.1336C>T | XP_016860514.1:p.Arg446Cys | |
| NM_001271466.4:c.1336C>T | NP_001258395.2:p.Arg446Cys | |
| NM_001291656.2:c.1336C>T | NP_001278585.2:p.Arg446Cys | |
| NM_001352754.2:c.1336C>T MANE Select | NP_001339683.2:p.Arg446Cys | |
| NM_001352755.2:c.1336C>T | NP_001339684.2:p.Arg446Cys | |
| NM_001352756.2:c.1336C>T | NP_001339685.2:p.Arg446Cys | |
| NM_001352757.2:c.1237C>T | NP_001339686.2:p.Arg413Cys | |
| NM_001352758.2:c.1237C>T | NP_001339687.2:p.Arg413Cys | |
| NM_001352759.2:c.1336C>T | NP_001339688.2:p.Arg446Cys | |
| NM_025139.6:c.1336C>T | NP_079415.4:p.Arg446Cys | |
| NR_148040.2:n.1445C>T |