Linked Data
ClinVar Variation Id:
325730
dbSNP Id:
rs185157579
ExAC:
17:78039302 G / A
gnomAD v2:
17-78039302-G-A
gnomAD v3:
17-80065503-G-A
gnomAD v4:
17-80065503-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80065503G>A , CM000679.2:g.80065503G>A | GRCh38 |
| NC_000017.10:g.78039302G>A , CM000679.1:g.78039302G>A | GRCh37 |
| NC_000017.9:g.75653897G>A | NCBI36 |
| NG_029761.1:g.33872G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397545.9:c.1459G>A MANE Select | ENSP00000380679.4:p.Ala487Thr | |
| ENST00000269318.9:c.1459G>A | ENSP00000269318.5:p.Ala487Thr | |
| ENST00000374876.4:c.1318-580G>A | ENSP00000364010.4:n.1318-580G>A | |
| ENST00000374877.7:c.1459G>A | ENSP00000364011.3:p.Ala487Thr | |
| ENST00000397545.8:c.1459G>A | ENSP00000380679.4:p.Ala487Thr | |
| ENST00000571028.1:c.75G>A | ||
| ENST00000574799.5:n.996G>A | ||
| NM_001243342.1:c.1459G>A | NP_001230271.1:p.Ala487Thr | |
| NM_017950.3:c.1459G>A | NP_060420.2:p.Ala487Thr | |
| XM_005257492.3:c.1459G>A | XP_005257549.1:p.Ala487Thr | |
| XM_011524963.1:c.1369G>A | XP_011523265.1:p.Ala457Thr | |
| XM_011524964.1:c.280G>A | XP_011523266.1:p.Ala94Thr | |
| XM_011524965.1:c.1459G>A | XP_011523267.1:p.Ala487Thr | |
| XR_934495.1:n.1490G>A | ||
| NM_001330508.1:c.1459G>A | NP_001317437.1:p.Ala487Thr | |
| XM_011524963.3:c.1369G>A | XP_011523265.1:p.Ala457Thr | |
| XM_011524964.3:c.280G>A | XP_011523266.1:p.Ala94Thr | |
| XM_011524965.3:c.1459G>A | XP_011523267.1:p.Ala487Thr | |
| XM_017024807.1:c.1459G>A | XP_016880296.1:p.Ala487Thr | |
| XM_024450821.1:c.1369G>A | XP_024306589.1:p.Ala457Thr | |
| XR_001752550.2:n.1490G>A | ||
| XR_934495.2:n.1490G>A | ||
| NM_017950.4:c.1459G>A MANE Select | NP_060420.2:p.Ala487Thr | |
| NM_001330508.2:c.1459G>A | NP_001317437.1:p.Ala487Thr | |
| NM_001243342.2:c.1459G>A | NP_001230271.1:p.Ala487Thr |