HGVS | Genome Assembly |
---|---|
NC_000011.10:g.18019049T>A , CM000673.2:g.18019049T>A | GRCh38 |
NC_000011.9:g.18040596T>A , CM000673.1:g.18040596T>A | GRCh37 |
NC_000011.8:g.17997172T>A | NCBI36 |
NG_011947.1:g.26740A>T | |
NG_011947.2:g.26740A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000682019.1:c.*1942A>T MANE Select | ENSP00000508368.1:n.*1942A>T | |
ENST00000250018.6:c.*1942A>T | ENSP00000250018.2:n.*1942A>T | |
NM_004179.3:c.*1942A>T MANE Select | NP_004170.1:n.*1942A>T |