Linked Data
dbSNP Id:
rs2032596
ExAC:
Y:14838700 C / T
gnomAD v2:
Y-14838700-C-T
gnomAD v3:
Y-12726767-C-T
gnomAD v4:
Y-12726767-C-T
COSMIC:
COSM4599394
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12726767C>T , CM000686.2:g.12726767C>T | GRCh38 |
| NC_000024.9:g.14838700C>T , CM000686.1:g.14838700C>T | GRCh37 |
| NC_000024.8:g.13348094C>T | NCBI36 |
| NG_008311.1:g.30541C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000651177.1:c.631C>T | ENSP00000498372.1:p.Arg211Cys | |
| ENST00000338981.7:c.631C>T MANE Select | ENSP00000342812.3:p.Arg211Cys | |
| ENST00000426564.6:n.643C>T | ||
| NM_004654.3:c.631C>T | NP_004645.2:p.Arg211Cys | |
| XM_011531469.1:c.631C>T | XP_011529771.1:p.Arg211Cys | |
| XM_011531470.1:c.397C>T | XP_011529772.1:p.Arg133Cys | |
| XM_017030078.2:c.631C>T | XP_016885567.1:p.Arg211Cys | |
| NM_004654.4:c.631C>T MANE Select | NP_004645.2:p.Arg211Cys |