HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32813249G>T , CM000668.2:g.32813249G>T | GRCh38 |
NC_000006.11:g.32781026G>T , CM000668.1:g.32781026G>T | GRCh37 |
NC_000006.10:g.32889004G>T | NCBI36 |
NG_009793.3:g.30522C>A | |
NG_012008.1:g.8800C>A | |
NG_009793.4:g.30522C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000438763.7:c.789C>A MANE Select | ENSP00000390020.2:p.Val263= | |
ENST00000648009.1:c.789C>A | ENSP00000496848.1:p.Val263= | |
ENST00000438763.6:c.789C>A | ENSP00000390020.2:p.Val263= | |
ENST00000475235.1:n.1312C>A | ||
ENST00000488325.5:c.*560C>A | ENSP00000436618.1:n.*560C>A | |
NM_002120.3:c.789C>A | NP_002111.1:p.Val263= | |
NM_002120.4:c.789C>A MANE Select | NP_002111.1:p.Val263= |