Linked Data
ClinVar Variation Id:
287052
dbSNP Id:
rs370156011
ExAC:
17:79496275 G / A
gnomAD v2:
17-79496275-G-A
gnomAD v3:
17-81529249-G-A
gnomAD v4:
17-81529249-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.81529249G>A , CM000679.2:g.81529249G>A | GRCh38 |
| NC_000017.10:g.79496275G>A , CM000679.1:g.79496275G>A | GRCh37 |
| NC_000017.9:g.77110870G>A | NCBI36 |
| NG_015964.1:g.5859G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000417245.7:c.718G>A MANE Select | ENSP00000388716.2:p.Ala240Thr | |
| ENST00000334850.7:c.718G>A | ENSP00000334665.7:p.Ala240Thr | |
| ENST00000417245.6:c.718G>A | ENSP00000388716.2:p.Ala240Thr | |
| NM_001077182.2:c.718G>A | NP_001070650.1:p.Ala240Thr | |
| NM_012418.3:c.718G>A | NP_036550.1:p.Ala240Thr | |
| XM_005257195.3:c.718G>A | XP_005257252.1:p.Ala240Thr | |
| XM_011524587.1:c.718G>A | XP_011522889.1:p.Ala240Thr | |
| XM_011524588.1:c.718G>A | XP_011522890.1:p.Ala240Thr | |
| XM_011524589.1:c.718G>A | XP_011522891.1:p.Ala240Thr | |
| XM_011524590.1:c.718G>A | XP_011522892.1:p.Ala240Thr | |
| XM_011524591.1:c.718G>A | XP_011522893.1:p.Ala240Thr | |
| XM_011524592.1:c.718G>A | XP_011522894.1:p.Ala240Thr | |
| XM_011524593.1:c.718G>A | XP_011522895.1:p.Ala240Thr | |
| XM_011524594.1:c.164-5803G>A | XP_011522896.1:n.164-5803G>A | |
| XM_011524587.2:c.718G>A | XP_011522889.1:p.Ala240Thr | |
| XM_011524590.2:c.718G>A | XP_011522892.1:p.Ala240Thr | |
| NM_001077182.3:c.718G>A | NP_001070650.1:p.Ala240Thr | |
| NM_012418.4:c.718G>A MANE Select | NP_036550.1:p.Ala240Thr |