HGVS | Genome Assembly |
---|---|
NC_000003.12:g.129530885C>T , CM000665.2:g.129530885C>T | GRCh38 |
NC_000003.11:g.129249728C>T , CM000665.1:g.129249728C>T | GRCh37 |
NC_000003.10:g.130732418C>T | NCBI36 |
NG_009115.1:g.7247C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000296271.4:c.371C>T MANE Select | ENSP00000296271.3:p.Ala124Val | |
ENST00000296271.3:c.371C>T | ENSP00000296271.3:p.Ala124Val | |
NM_000539.3:c.371C>T MANE Select | NP_000530.1:p.Ala124Val |