HGVS | Genome Assembly |
---|---|
NC_000011.10:g.124872510G>A , CM000673.2:g.124872510G>A | GRCh38 |
NC_000011.9:g.124742406G>A , CM000673.1:g.124742406G>A | GRCh37 |
NC_000011.8:g.124247616G>A | NCBI36 |
NG_016214.1:g.12102G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000397801.6:c.1288G>A MANE Select | ENSP00000380903.1:p.Ala430Thr | |
ENST00000397801.5:c.1288G>A | ENSP00000380903.1:p.Ala430Thr | |
ENST00000538940.5:c.1222G>A | ENSP00000441797.1:p.Ala408Thr | |
NM_022370.3:c.1288G>A | NP_071765.2:p.Ala430Thr | |
XM_011542953.1:c.2260G>A | XP_011541255.1:p.Ala754Thr | |
XM_017018122.1:c.1222G>A | XP_016873611.1:p.Ala408Thr | |
NM_022370.4:c.1288G>A MANE Select | NP_071765.2:p.Ala430Thr |