Linked Data
dbSNP Id:
rs755011254
ExAC:
2:234183326 C / T
gnomAD v2:
2-234183326-C-T
gnomAD v3:
2-233274680-C-T
gnomAD v4:
2-233274680-C-T
COSMIC:
COSM1183893
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233274680C>T , CM000664.2:g.233274680C>T | GRCh38 |
| NC_000002.11:g.234183326C>T , CM000664.1:g.234183326C>T | GRCh37 |
| NC_000002.10:g.233848065C>T | NCBI36 |
| NG_023038.1:g.28110C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392017.9:c.856C>T MANE Select | ENSP00000375872.4:p.Arg286Cys | |
| ENST00000347464.9:c.367C>T | ENSP00000318259.6:p.Arg123Cys | |
| ENST00000373525.9:c.424C>T | ENSP00000362625.5:p.Arg142Cys | |
| ENST00000392017.8:c.856C>T | ENSP00000375872.4:p.Arg286Cys | |
| ENST00000392018.1:c.907C>T | ENSP00000375873.1:p.Arg303Cys | |
| ENST00000392020.8:c.799C>T | ENSP00000375875.4:p.Arg267Cys | |
| ENST00000392021.7:c.*737C>T | ENSP00000375876.3:n.*737C>T | |
| ENST00000419681.5:c.367C>T | ENSP00000398773.1:p.Arg123Cys | |
| ENST00000444735.5:c.475C>T | ENSP00000409215.1:p.Arg159Cys | |
| ENST00000474148.5:n.1651C>T | ||
| ENST00000479942.5:n.1002C>T | ||
| ENST00000492298.5:n.377C>T | ||
| ENST00000498620.5:n.363C>T | ||
| NM_001190266.1:c.604C>T | NP_001177195.1:p.Arg202Cys | |
| NM_001190267.1:c.508C>T | NP_001177196.1:p.Arg170Cys | |
| NM_017974.3:c.799C>T | NP_060444.3:p.Arg267Cys | |
| NM_030803.6:c.856C>T | NP_110430.5:p.Arg286Cys | |
| NM_198890.2:c.367C>T | NP_942593.2:p.Arg123Cys | |
| XM_005246082.1:c.907C>T | XP_005246139.1:p.Arg303Cys | |
| XM_005246084.1:c.475C>T | XP_005246141.1:p.Arg159Cys | |
| XM_005246086.1:c.424C>T | XP_005246143.1:p.Arg142Cys | |
| XM_006712608.1:c.655C>T | XP_006712671.1:p.Arg219Cys | |
| XR_241242.1:n.1101C>T | ||
| NM_001363742.1:c.907C>T | NP_001350671.1:p.Arg303Cys | |
| XM_005246084.2:c.475C>T | XP_005246141.1:p.Arg159Cys | |
| XM_005246086.2:c.424C>T | XP_005246143.1:p.Arg142Cys | |
| XM_006712608.3:c.655C>T | XP_006712671.1:p.Arg219Cys | |
| XR_001738801.2:n.1037C>T | ||
| XR_241242.3:n.1088C>T | ||
| NM_030803.7:c.856C>T MANE Select | NP_110430.5:p.Arg286Cys | |
| NM_001190266.2:c.604C>T | NP_001177195.1:p.Arg202Cys | |
| NM_001190267.2:c.508C>T | NP_001177196.1:p.Arg170Cys | |
| NM_001363742.2:c.907C>T | NP_001350671.1:p.Arg303Cys | |
| NM_017974.4:c.799C>T | NP_060444.3:p.Arg267Cys | |
| NM_198890.3:c.367C>T | NP_942593.2:p.Arg123Cys |