HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133255699C>A , CM000671.2:g.133255699C>A | GRCh38 |
NC_000009.11:g.136131086C>A , CM000671.1:g.136131086C>A | GRCh37 |
NC_000009.10:g.135120907C>A | NCBI36 |
NG_006669.1:g.21969G>T | |
NG_006669.2:g.24517G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000453660.4:n.1061G>T | ||
ENST00000647353.1:n.54-4547G>T | ||
ENST00000679909.1:c.28+19463G>T | ENSP00000506089.1:n.28+19463G>T | |
ENST00000453660.3:n.1043G>T | ||
ENST00000538324.2:c.1029G>T | ENSP00000483018.1:p.Val343= | |
ENST00000611156.4:c.1029G>T | ENSP00000483265.1:p.Val343= | |
NM_020469.2:c.1032G>T | NP_065202.2:p.Val344= | |
NM_020469.3:c.1032G>T | NP_065202.2:p.Val344= |