Linked Data
dbSNP Id:
rs751280060
ExAC:
3:129249858 C / T
gnomAD v2:
3-129249858-C-T
gnomAD v4:
3-129531015-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129531015C>T , CM000665.2:g.129531015C>T | GRCh38 |
| NC_000003.11:g.129249858C>T , CM000665.1:g.129249858C>T | GRCh37 |
| NC_000003.10:g.130732548C>T | NCBI36 |
| NG_009115.1:g.7377C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.501C>T MANE Select | ENSP00000296271.3:p.Cys167= | |
| ENST00000296271.3:c.501C>T | ENSP00000296271.3:p.Cys167= | |
| NM_000539.3:c.501C>T MANE Select | NP_000530.1:p.Cys167= |