HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133255632T>A , CM000671.2:g.133255632T>A | GRCh38 |
NC_000009.11:g.136131019T>A , CM000671.1:g.136131019T>A | GRCh37 |
NC_000009.10:g.135120840T>A | NCBI36 |
NG_006669.1:g.22036A>T | |
NG_006669.2:g.24584A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000453660.4:n.1128A>T | ||
ENST00000647353.1:n.54-4480A>T | ||
ENST00000679909.1:c.28+19530A>T | ENSP00000506089.1:n.28+19530A>T | |
ENST00000453660.3:n.1110A>T | ||
ENST00000538324.2:c.1092A>T | ENSP00000483018.1:p.Ala364= | |
ENST00000611156.4:c.*34A>T | ENSP00000483265.1:n.*34A>T | |
NM_020469.2:c.*34A>T | NP_065202.2:n.*34A>T | |
NM_020469.3:c.*34A>T | NP_065202.2:n.*34A>T |