HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31269495G>A , CM000668.2:g.31269495G>A | GRCh38 |
NC_000006.11:g.31237272G>A , CM000668.1:g.31237272G>A | GRCh37 |
NC_000006.10:g.31345251G>A | NCBI36 |
NG_029422.2:g.7637C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.1046C>T MANE Select | ENSP00000365402.5:p.Ala349Val | |
ENST00000376228.9:c.1046C>T | ENSP00000365402.5:p.Ala349Val | |
ENST00000376237.8:c.*633C>T | ENSP00000365412.4:n.*633C>T | |
ENST00000383329.7:c.1064C>T | ENSP00000372819.3:p.Ala355Val | |
ENST00000466892.5:n.172C>T | ||
ENST00000470363.5:n.804C>T | ||
ENST00000487245.5:n.1405C>T | ||
NM_002117.5:c.1046C>T | NP_002108.4:p.Ala349Val | |
NM_002117.6:c.1046C>T MANE Select | NP_002108.4:p.Ala349Val |