Linked Data
ClinVar Variation Id:
237639
dbSNP Id:
rs758542021
ExAC:
10:89725110 G / A
gnomAD v2:
10-89725110-G-A
gnomAD v3:
10-87965353-G-A
gnomAD v4:
10-87965353-G-A
COSMIC:
COSM5056
ERepo:
CA059160/MONDO:0017623/003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87965353G>A , CM000672.2:g.87965353G>A | GRCh38 |
| NC_000010.10:g.89725110G>A , CM000672.1:g.89725110G>A | GRCh37 |
| NC_000010.9:g.89715090G>A | NCBI36 |
| NG_007466.2:g.106915G>A , LRG_311:g.106915G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.1186G>A | ENSP00000514759.2:p.Val396Ile | |
| ENST00000710265.1:c.*122G>A | ENSP00000518161.1:n.*122G>A | |
| ENST00000688158.2:n.1828G>A | ||
| ENST00000688922.2:c.*923G>A | ENSP00000508742.2:n.*923G>A | |
| ENST00000700021.1:c.1048G>A | ENSP00000514757.1:p.Val350Ile | |
| ENST00000700022.1:c.*432G>A | ENSP00000514758.1:n.*432G>A | |
| ENST00000700023.1:n.2251G>A | ||
| ENST00000700024.1:n.2485G>A | ||
| ENST00000706954.1:c.1093G>A | ENSP00000516674.1:p.Val365Ile | |
| ENST00000706955.1:c.*1128G>A | ENSP00000516675.1:n.*1128G>A | |
| ENST00000686459.1:c.*679G>A | ENSP00000508909.1:n.*679G>A | |
| ENST00000688158.1:c.*1204G>A | ENSP00000509254.1:n.*1204G>A | |
| ENST00000688308.1:c.1093G>A | ENSP00000508752.1:p.Val365Ile | |
| ENST00000688922.1:c.1014G>A | ||
| ENST00000693560.1:c.1612G>A | ENSP00000509861.1:p.Val538Ile | |
| ENST00000371953.8:c.1093G>A MANE Select | ENSP00000361021.3:p.Val365Ile | |
| ENST00000371953.7:c.1093G>A | ENSP00000361021.3:p.Val365Ile | |
| NM_000314.5:c.1093G>A | NP_000305.3:p.Val365Ile | |
| NM_000314.6:c.1093G>A | NP_000305.3:p.Val365Ile | |
| NM_001304717.2:c.1612G>A | NP_001291646.2:p.Val538Ile | |
| NM_001304718.1:c.502G>A | NP_001291647.1:p.Val168Ile | |
| XM_006717926.2:c.1048G>A | XP_006717989.1:p.Val350Ile | |
| XM_011539982.1:c.997G>A | XP_011538284.1:p.Val333Ile | |
| XR_945791.1:n.1663G>A | ||
| NM_000314.7:c.1093G>A | NP_000305.3:p.Val365Ile | |
| NM_001304717.5:c.1612G>A | NP_001291646.4:p.Val538Ile | |
| NM_001304718.2:c.502G>A | NP_001291647.1:p.Val168Ile | |
| NM_000314.8:c.1093G>A MANE Select | NP_000305.3:p.Val365Ile |