Linked Data
ClinVar Variation Id:
44996
dbSNP Id:
rs146351534
ExAC:
14:76964736 G / A
gnomAD v2:
14-76964736-G-A
gnomAD v3:
14-76498393-G-A
gnomAD v4:
14-76498393-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.76498393G>A , CM000676.2:g.76498393G>A | GRCh38 |
| NC_000014.8:g.76964736G>A , CM000676.1:g.76964736G>A | GRCh37 |
| NC_000014.7:g.76034489G>A | NCBI36 |
| NG_012278.1:g.132047G>A | |
| NG_012278.2:g.132047G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380887.7:c.1237G>A | ENSP00000370270.2:p.Val413Ile | |
| ENST00000505752.6:c.1237G>A | ENSP00000423004.1:p.Val413Ile | |
| ENST00000512784.6:c.1252G>A | ENSP00000424992.2:p.Val418Ile | |
| ENST00000644823.1:c.1300G>A MANE Select | ENSP00000493776.1:p.Val434Ile | |
| ENST00000380887.6:c.1237G>A | ENSP00000370270.2:p.Val413Ile | |
| ENST00000505752.5:c.1237G>A | ENSP00000423004.1:p.Val413Ile | |
| ENST00000509242.5:c.1237G>A | ENSP00000422488.1:p.Val413Ile | |
| ENST00000512784.5:c.1252G>A | ENSP00000424992.1:p.Val418Ile | |
| ENST00000556177.1:c.1237G>A | ENSP00000451658.1:p.Val413Ile | |
| NM_004452.3:c.1237G>A | NP_004443.3:p.Val413Ile | |
| XM_005267404.2:c.1300G>A | XP_005267461.1:p.Val434Ile | |
| XM_011536547.1:c.1300G>A | XP_011534849.1:p.Val434Ile | |
| XM_011536548.1:c.1237G>A | XP_011534850.1:p.Val413Ile | |
| XM_011536549.1:c.1237G>A | XP_011534851.1:p.Val413Ile | |
| XM_011536550.1:c.1237G>A | XP_011534852.1:p.Val413Ile | |
| XM_011536551.1:c.1237G>A | XP_011534853.1:p.Val413Ile | |
| XM_011536552.1:c.1237G>A | XP_011534854.1:p.Val413Ile | |
| XM_011536553.1:c.1300G>A | XP_011534855.1:p.Val434Ile | |
| XM_011536554.1:c.1300G>A | XP_011534856.1:p.Val434Ile | |
| XM_011536555.1:c.559G>A | XP_011534857.1:p.Val187Ile | |
| XR_943401.1:n.1547G>A | ||
| XR_944039.1:n.144+3764C>T | ||
| XM_011536547.2:c.1300G>A | XP_011534849.1:p.Val434Ile | |
| XM_011536550.2:c.1237G>A | XP_011534852.1:p.Val413Ile | |
| XM_011536553.2:c.1300G>A | XP_011534855.1:p.Val434Ile | |
| XM_011536554.2:c.1300G>A | XP_011534856.1:p.Val434Ile | |
| XM_017021085.1:c.1237G>A | XP_016876574.1:p.Val413Ile | |
| XM_024449508.1:c.1300G>A | XP_024305276.1:p.Val434Ile | |
| XM_024449509.1:c.1237G>A | XP_024305277.1:p.Val413Ile | |
| XR_001750189.1:n.1770G>A | ||
| XR_943401.2:n.1770G>A | ||
| NM_001379180.1:c.1300G>A MANE Select | NP_001366109.1:p.Val434Ile | |
| NM_004452.4:c.1237G>A | NP_004443.3:p.Val413Ile |