Linked Data
ClinVar Variation Id:
1759934
ClinVar RCV Id:
RCV002396352
dbSNP Id:
rs2132277538
COSMIC:
COSM6438157
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87957981G>A , CM000672.2:g.87957981G>A | GRCh38 |
| NC_000010.10:g.89717738G>A , CM000672.1:g.89717738G>A | GRCh37 |
| NC_000010.9:g.89707718G>A | NCBI36 |
| NG_007466.2:g.99543G>A , LRG_311:g.99543G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.763G>A | ENSP00000514759.2:p.Val255Ile | |
| ENST00000710265.1:c.763G>A | ENSP00000518161.1:p.Val255Ile | |
| ENST00000472832.3:c.763G>A | ENSP00000483066.2:p.Val255Ile | |
| ENST00000688158.2:n.1498G>A | ||
| ENST00000688922.2:c.*593G>A | ENSP00000508742.2:n.*593G>A | |
| ENST00000700021.1:c.718G>A | ENSP00000514757.1:p.Val240Ile | |
| ENST00000700022.1:c.*102G>A | ENSP00000514758.1:n.*102G>A | |
| ENST00000700023.1:n.1921G>A | ||
| ENST00000700024.1:n.2155G>A | ||
| ENST00000700025.1:n.1532G>A | ||
| ENST00000700026.1:n.400G>A | ||
| ENST00000700029.1:c.597G>A | ||
| ENST00000706954.1:c.763G>A | ENSP00000516674.1:p.Val255Ile | |
| ENST00000706955.1:c.*798G>A | ENSP00000516675.1:n.*798G>A | |
| ENST00000686459.1:c.*349G>A | ENSP00000508909.1:n.*349G>A | |
| ENST00000688158.1:c.*874G>A | ENSP00000509254.1:n.*874G>A | |
| ENST00000688308.1:c.763G>A | ENSP00000508752.1:p.Val255Ile | |
| ENST00000688922.1:c.684G>A | ||
| ENST00000693560.1:c.1282G>A | ENSP00000509861.1:p.Val428Ile | |
| ENST00000371953.8:c.763G>A MANE Select | ENSP00000361021.3:p.Val255Ile | |
| ENST00000371953.7:c.763G>A | ENSP00000361021.3:p.Val255Ile | |
| ENST00000472832.2:c.190G>A | ENSP00000483066.1:p.Val64Ile | |
| NM_000314.5:c.763G>A | NP_000305.3:p.Val255Ile | |
| NM_000314.6:c.763G>A | NP_000305.3:p.Val255Ile | |
| NM_001304717.2:c.1282G>A | NP_001291646.2:p.Val428Ile | |
| NM_001304718.1:c.172G>A | NP_001291647.1:p.Val58Ile | |
| XM_006717926.2:c.718G>A | XP_006717989.1:p.Val240Ile | |
| XM_011539981.1:c.763G>A | XP_011538283.1:p.Val255Ile | |
| XM_011539982.1:c.667G>A | XP_011538284.1:p.Val223Ile | |
| XR_945791.1:n.1333G>A | ||
| NM_000314.7:c.763G>A | NP_000305.3:p.Val255Ile | |
| NM_001304717.5:c.1282G>A | NP_001291646.4:p.Val428Ile | |
| NM_001304718.2:c.172G>A | NP_001291647.1:p.Val58Ile | |
| NM_000314.8:c.763G>A MANE Select | NP_000305.3:p.Val255Ile |