HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38401409C>T , CM000685.2:g.38401409C>T | GRCh38 |
NC_000023.10:g.38260662C>T , CM000685.1:g.38260662C>T | GRCh37 |
NC_000023.9:g.38145606C>T | NCBI36 |
NG_008471.1:g.53927C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000039007.5:c.521C>T MANE Select | ENSP00000039007.4:p.Ala174Val | |
ENST00000643344.1:c.*271C>T | ENSP00000496606.1:n.*271C>T | |
ENST00000039007.4:c.521C>T | ENSP00000039007.4:p.Ala174Val | |
ENST00000465127.1:c.172-264712C>T | ENSP00000417050.1:n.172-264712C>T | |
ENST00000488812.1:n.558C>T | ||
NM_000531.5:c.521C>T | NP_000522.3:p.Ala174Val | |
XM_017029556.1:c.521C>T | XP_016885045.1:p.Ala174Val | |
NM_000531.6:c.521C>T MANE Select | NP_000522.3:p.Ala174Val |