HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57763732G>A , CM000674.2:g.57763732G>A | GRCh38 |
NC_000012.11:g.58157515G>A , CM000674.1:g.58157515G>A | GRCh37 |
NC_000012.10:g.56443782G>A | NCBI36 |
NG_007076.1:g.8462C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000713544.1:c.1373C>T | ENSP00000518840.1:p.Ala458Val | |
ENST00000713545.1:c.*297C>T | ENSP00000518841.1:n.*297C>T | |
ENST00000228606.9:c.1292C>T MANE Select | ENSP00000228606.4:p.Ala431Val | |
ENST00000228606.8:c.1292C>T | ENSP00000228606.4:p.Ala431Val | |
ENST00000547344.5:n.1431C>T | ||
NM_000785.3:c.1292C>T | NP_000776.1:p.Ala431Val | |
NM_000785.4:c.1292C>T MANE Select | NP_000776.1:p.Ala431Val |