HGVS | Genome Assembly |
---|---|
NC_000010.11:g.47350157C>A , CM000672.2:g.47350157C>A | GRCh38 |
NC_000010.10:g.48389205G>T , CM000672.1:g.48389205G>T | GRCh37 |
NC_000010.9:g.48009211G>T | NCBI36 |
NG_029718.1:g.6787C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000584701.2:c.1673C>A MANE Select | ENSP00000463151.1:p.Ser558Ter | |
ENST00000584701.1:c.1673C>A | ENSP00000463151.1:p.Ser558Ter | |
NM_002900.2:c.1673C>A | NP_002891.1:p.Ser558Ter | |
NM_002900.3:c.1673C>A MANE Select | NP_002891.1:p.Ser558Ter |