Linked Data
dbSNP Id:
rs1282270309
gnomAD v3:
6-160437186-C-T
gnomAD v4:
6-160437186-C-T
COSMIC:
COSM1487431
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160437186C>T , CM000668.2:g.160437186C>T | GRCh38 |
| NC_000006.11:g.160858218C>T , CM000668.1:g.160858218C>T | GRCh37 |
| NC_000006.10:g.160778208C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000275300.3:c.1263C>T MANE Select | ENSP00000275300.2:p.Cys421= | |
| ENST00000275300.2:c.1263C>T | ENSP00000275300.2:p.Cys421= | |
| NM_021977.3:c.1263C>T | NP_068812.1:p.Cys421= | |
| XM_005267106.3:c.870C>T | XP_005267163.1:p.Cys290= | |
| XM_011536075.1:c.807C>T | XP_011534377.1:p.Cys269= | |
| XM_011536076.1:c.807C>T | XP_011534378.1:p.Cys269= | |
| XM_011536077.1:c.807C>T | XP_011534379.1:p.Cys269= | |
| XR_245546.1:n.1018-5575C>T | ||
| XM_005267106.5:c.870C>T | XP_005267163.1:p.Cys290= | |
| XM_011536075.2:c.807C>T | XP_011534377.1:p.Cys269= | |
| XM_011536076.3:c.807C>T | XP_011534378.1:p.Cys269= | |
| XM_017011203.2:c.807C>T | XP_016866692.1:p.Cys269= | |
| XR_001743588.1:n.1207C>T | ||
| XR_001743589.1:n.1018-5575C>T | ||
| NM_021977.4:c.1263C>T MANE Select | NP_068812.1:p.Cys421= |