HGVS | Genome Assembly |
---|---|
NC_000001.11:g.40838375G>C , CM000663.2:g.40838375G>C | GRCh38 |
NC_000001.10:g.41304047G>C , CM000663.1:g.41304047G>C | GRCh37 |
NC_000001.9:g.41076634G>C | NCBI36 |
NG_008139.1:g.59364G>C | |
NG_008139.2:g.59364G>C | |
NG_008139.3:g.59589G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000347132.10:c.1940G>C MANE Select | ENSP00000262916.6:p.Gly647Ala | |
ENST00000347132.9:c.1940G>C | ENSP00000262916.6:p.Gly647Ala | |
ENST00000443478.3:c.1521G>C | ||
ENST00000506017.1:n.1259G>C | ||
ENST00000509682.6:c.1778G>C | ENSP00000423756.2:p.Gly593Ala | |
NM_004700.3:c.1940G>C | NP_004691.2:p.Gly647Ala | |
NM_172163.2:c.1778G>C | NP_751895.1:p.Gly593Ala | |
XM_017002792.1:c.923G>C | XP_016858281.1:p.Gly308Ala | |
NM_004700.4:c.1940G>C MANE Select | NP_004691.2:p.Gly647Ala | |
NM_172163.3:c.1778G>C | NP_751895.1:p.Gly593Ala |