Linked Data
ClinVar Variation Id:
38912
ClinVar RCV Id:
RCV000032160
dbSNP Id:
rs113994174
ExAC:
2:98354039 C / T
gnomAD v2:
2-98354039-C-T
gnomAD v3:
2-97737576-C-T
gnomAD v4:
2-97737576-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.97737576C>T , CM000664.2:g.97737576C>T | GRCh38 |
| NC_000002.11:g.98354039C>T , CM000664.1:g.98354039C>T | GRCh37 |
| NC_000002.10:g.97720471C>T | NCBI36 |
| NG_007727.1:g.29009C>T , LRG_126:g.29009C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698508.1:c.1393C>T | ENSP00000513759.1:p.Arg465Cys | |
| ENST00000698509.1:n.1533C>T | ||
| ENST00000264972.10:c.1393C>T MANE Select | ENSP00000264972.5:p.Arg465Cys | |
| ENST00000264972.9:c.1393C>T | ENSP00000264972.5:p.Arg465Cys | |
| ENST00000451498.2:c.472C>T | ENSP00000400475.2:p.Arg158Cys | |
| ENST00000463643.5:n.1254C>T | ||
| ENST00000487283.5:n.2445C>T | ||
| ENST00000495754.1:n.331C>T | ||
| NM_001079.3:c.1393C>T , LRG_126t1:c.1393C>T | NP_001070.2:p.Arg465Cys | |
| NM_207519.1:c.472C>T | NP_997402.1:p.Arg158Cys | |
| XM_005264015.3:c.1375C>T | XP_005264072.1:p.Arg459Cys | |
| XM_006712728.2:c.1393C>T | XP_006712791.1:p.Arg465Cys | |
| XM_011511783.1:c.1393C>T | XP_011510085.1:p.Arg465Cys | |
| XR_923018.1:n.1595C>T | ||
| XR_923019.1:n.1595C>T | ||
| XR_923020.1:n.1595C>T | ||
| XM_017004867.1:c.1762C>T | XP_016860356.1:p.Arg588Cys | |
| XM_017004868.1:c.1744C>T | XP_016860357.1:p.Arg582Cys | |
| XM_017004869.1:c.1762C>T | XP_016860358.1:p.Arg588Cys | |
| XM_017004870.1:c.1762C>T | XP_016860359.1:p.Arg588Cys | |
| XR_001738925.1:n.3001C>T | ||
| XR_001738926.1:n.3001C>T | ||
| XR_001738927.1:n.3001C>T | ||
| NM_001079.4:c.1393C>T MANE Select | NP_001070.2:p.Arg465Cys | |
| NM_001378594.1:c.1393C>T | NP_001365523.1:p.Arg465Cys | |
| NM_207519.2:c.472C>T | NP_997402.1:p.Arg158Cys |