HGVS | Genome Assembly |
---|---|
NC_000017.11:g.7454432T>C , CM000679.2:g.7454432T>C | GRCh38 |
NC_000017.10:g.7357751T>C , CM000679.1:g.7357751T>C | GRCh37 |
NC_000017.9:g.7298475T>C | NCBI36 |
NG_008026.1:g.14346T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000306071.7:c.956T>C MANE Select | ENSP00000304290.2:p.Val319Ala | |
ENST00000306071.6:c.956T>C | ENSP00000304290.2:p.Val319Ala | |
ENST00000536404.6:c.740T>C | ENSP00000439209.2:p.Val247Ala | |
ENST00000570557.5:c.619T>C | ||
ENST00000573209.1:n.1900T>C | ||
ENST00000576360.1:c.605-12T>C | ENSP00000459092.1:n.605-12T>C | |
NM_000747.2:c.956T>C | NP_000738.2:p.Val319Ala | |
NM_000747.3:c.956T>C MANE Select | NP_000738.2:p.Val319Ala |