HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52811812G>T , CM000674.2:g.52811812G>T | GRCh38 |
NC_000012.11:g.53205596G>T , CM000674.1:g.53205596G>T | GRCh37 |
NC_000012.10:g.51491863G>T | NCBI36 |
NG_007380.1:g.7740C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000551956.2:c.628C>A MANE Select | ENSP00000448220.1:p.Gln210Lys | |
ENST00000548097.5:c.*140C>A | ENSP00000449755.1:n.*140C>A | |
ENST00000551436.1:n.186C>A | ||
ENST00000551956.1:c.628C>A | ENSP00000448220.1:p.Gln210Lys | |
ENST00000552668.1:c.*83-996C>A | ENSP00000447320.1:n.*83-996C>A | |
NM_002272.3:c.628C>A | NP_002263.3:p.Gln210Lys | |
NM_002272.4:c.628C>A MANE Select | NP_002263.3:p.Gln210Lys |