HGVS | Genome Assembly |
---|---|
NC_000001.11:g.58576781A>T , CM000663.2:g.58576781A>T | GRCh38 |
NC_000001.10:g.59042453A>T , CM000663.1:g.59042453A>T | GRCh37 |
NC_000001.9:g.58815041A>T | NCBI36 |
NG_016237.1:g.5714T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371225.4:c.376T>A MANE Select | ENSP00000360269.2:p.Trp126Arg | |
ENST00000371225.3:c.376T>A | ENSP00000360269.2:p.Trp126Arg | |
NM_002353.2:c.376T>A | NP_002344.2:p.Trp126Arg | |
NM_002353.3:c.376T>A MANE Select | NP_002344.2:p.Trp126Arg |