HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7526878G>A , CM000681.2:g.7526878G>A | GRCh38 |
NC_000019.9:g.7591764G>A , CM000681.1:g.7591764G>A | GRCh37 |
NC_000019.8:g.7497764G>A | NCBI36 |
NG_015806.1:g.9269G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264079.11:c.523G>A MANE Select | ENSP00000264079.5:p.Val175Met | |
ENST00000264079.10:c.523G>A | ENSP00000264079.5:p.Val175Met | |
ENST00000394321.9:n.603G>A | ||
ENST00000596008.1:n.485G>A | ||
ENST00000598406.1:n.344G>A | ||
ENST00000601003.1:c.523G>A | ENSP00000469074.1:p.Val175Met | |
NM_020533.2:c.523G>A | NP_065394.1:p.Val175Met | |
NM_020533.3:c.523G>A MANE Select | NP_065394.1:p.Val175Met |