HGVS | Genome Assembly |
---|---|
NC_000010.11:g.47350482C>A , CM000672.2:g.47350482C>A | GRCh38 |
NC_000010.10:g.48388880G>T , CM000672.1:g.48388880G>T | GRCh37 |
NC_000010.9:g.48008886G>T | NCBI36 |
NG_029718.1:g.7112C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000584701.2:c.1998C>A MANE Select | ENSP00000463151.1:p.Ala666= | |
ENST00000584701.1:c.1998C>A | ENSP00000463151.1:p.Ala666= | |
NM_002900.2:c.1998C>A | NP_002891.1:p.Ala666= | |
NM_002900.3:c.1998C>A MANE Select | NP_002891.1:p.Ala666= |