HGVS | Genome Assembly |
---|---|
NC_000018.10:g.21815634G>A , CM000680.2:g.21815634G>A | GRCh38 |
NC_000018.9:g.19395595G>A , CM000680.1:g.19395595G>A | GRCh37 |
NC_000018.8:g.17649593G>A | NCBI36 |
NG_033272.2:g.115678G>A , LRG_759:g.115678G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000261537.7:c.1498G>A MANE Select | ENSP00000261537.6:p.Ala500Thr | |
ENST00000261537.6:c.1498G>A | ENSP00000261537.6:p.Ala500Thr | |
ENST00000577749.5:n.483G>A | ||
ENST00000578260.1:n.301G>A | ||
ENST00000578646.5:n.1475G>A | ||
NM_020774.3:c.1498G>A , LRG_759t1:c.1498G>A | NP_065825.1:p.Ala500Thr | |
XM_011526098.1:c.28G>A | XP_011524400.1:p.Ala10Thr | |
XR_935234.1:n.2618G>A | ||
XR_935235.1:n.2541G>A | ||
XM_017025873.1:c.982G>A | XP_016881362.1:p.Ala328Thr | |
NM_020774.4:c.1498G>A MANE Select | NP_065825.1:p.Ala500Thr |