HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52811803G>T , CM000674.2:g.52811803G>T | GRCh38 |
NC_000012.11:g.53205587G>T , CM000674.1:g.53205587G>T | GRCh37 |
NC_000012.10:g.51491854G>T | NCBI36 |
NG_007380.1:g.7749C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000551956.2:c.637C>A MANE Select | ENSP00000448220.1:p.Leu213Met | |
ENST00000548097.5:c.*149C>A | ENSP00000449755.1:n.*149C>A | |
ENST00000551436.1:n.195C>A | ||
ENST00000551956.1:c.637C>A | ENSP00000448220.1:p.Leu213Met | |
ENST00000552668.1:c.*83-987C>A | ENSP00000447320.1:n.*83-987C>A | |
NM_002272.3:c.637C>A | NP_002263.3:p.Leu213Met | |
NM_002272.4:c.637C>A MANE Select | NP_002263.3:p.Leu213Met |