HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52811810C>A , CM000674.2:g.52811810C>A | GRCh38 |
NC_000012.11:g.53205594C>A , CM000674.1:g.53205594C>A | GRCh37 |
NC_000012.10:g.51491861C>A | NCBI36 |
NG_007380.1:g.7742G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000551956.2:c.630G>T MANE Select | ENSP00000448220.1:p.Gln210His | |
ENST00000548097.5:c.*142G>T | ENSP00000449755.1:n.*142G>T | |
ENST00000551436.1:n.188G>T | ||
ENST00000551956.1:c.630G>T | ENSP00000448220.1:p.Gln210His | |
ENST00000552668.1:c.*83-994G>T | ENSP00000447320.1:n.*83-994G>T | |
NM_002272.3:c.630G>T | NP_002263.3:p.Gln210His | |
NM_002272.4:c.630G>T MANE Select | NP_002263.3:p.Gln210His |