HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52571312G>T , CM000674.2:g.52571312G>T | GRCh38 |
NC_000012.11:g.52965096G>T , CM000674.1:g.52965096G>T | GRCh37 |
NC_000012.10:g.51251363G>T | NCBI36 |
NG_012321.1:g.7514C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000305620.3:c.843+47C>A MANE Select | ENSP00000307240.2:n.843+47C>A | |
ENST00000305620.2:c.843+47C>A | ENSP00000307240.2:n.843+47C>A | |
ENST00000549343.5:c.843+47C>A | ENSP00000447447.1:n.843+47C>A | |
NM_175053.3:c.843+47C>A | NP_778223.2:n.843+47C>A | |
XM_011537902.1:c.843+47C>A | XP_011536204.1:n.843+47C>A | |
NM_175053.4:c.843+47C>A MANE Select | NP_778223.2:n.843+47C>A |