HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52811806C>A , CM000674.2:g.52811806C>A | GRCh38 |
NC_000012.11:g.53205590C>A , CM000674.1:g.53205590C>A | GRCh37 |
NC_000012.10:g.51491857C>A | NCBI36 |
NG_007380.1:g.7746G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000551956.2:c.634G>T MANE Select | ENSP00000448220.1:p.Glu212Ter | |
ENST00000548097.5:c.*146G>T | ENSP00000449755.1:n.*146G>T | |
ENST00000551436.1:n.192G>T | ||
ENST00000551956.1:c.634G>T | ENSP00000448220.1:p.Glu212Ter | |
ENST00000552668.1:c.*83-990G>T | ENSP00000447320.1:n.*83-990G>T | |
NM_002272.3:c.634G>T | NP_002263.3:p.Glu212Ter | |
NM_002272.4:c.634G>T MANE Select | NP_002263.3:p.Glu212Ter |