HGVS | Genome Assembly |
---|---|
NC_000017.11:g.44352230C>G , CM000679.2:g.44352230C>G | GRCh38 |
NC_000017.10:g.42429598C>G , CM000679.1:g.42429598C>G | GRCh37 |
NC_000017.9:g.39785124C>G | NCBI36 |
NG_007886.1:g.12108C>G , LRG_661:g.12108C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000053867.8:c.1395C>G MANE Select | ENSP00000053867.2:p.Ala465= | |
ENST00000639447.1:c.1137-299C>G | ENSP00000492014.1:n.1137-299C>G | |
ENST00000053867.7:c.1395C>G | ENSP00000053867.2:p.Ala465= | |
ENST00000586242.1:c.29C>G | ||
ENST00000586443.1:c.836C>G | ||
ENST00000589265.5:c.924C>G | ENSP00000467616.1:p.Ala308= | |
NM_002087.3:c.1395C>G | NP_002078.1:p.Ala465= | |
XM_005257253.1:c.1395C>G | XP_005257310.1:p.Ala465= | |
XM_024450730.1:c.1395C>G | XP_024306498.1:p.Ala465= | |
NM_002087.4:c.1395C>G MANE Select | NP_002078.1:p.Ala465= |