Linked Data
ClinVar Variation Id:
183722
dbSNP Id:
rs786201041
COSMIC:
COSM5978
MutSpliceDB:
CA000103
ERepo:
CA000103/MONDO:0017623/003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87961119G>A , CM000672.2:g.87961119G>A | GRCh38 |
| NC_000010.10:g.89720876G>A , CM000672.1:g.89720876G>A | GRCh37 |
| NC_000010.9:g.89710856G>A | NCBI36 |
| NG_007466.2:g.102681G>A , LRG_311:g.102681G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.1119+1G>A | ENSP00000514759.2:n.1119+1G>A | |
| ENST00000710265.1:c.1026+1G>A | ENSP00000518161.1:n.1026+1G>A | |
| ENST00000472832.3:c.1027G>A | ENSP00000483066.2:p.Val343Ile | |
| ENST00000688158.2:n.1761+1G>A | ||
| ENST00000688922.2:c.*856+1G>A | ENSP00000508742.2:n.*856+1G>A | |
| ENST00000700021.1:c.981+1G>A | ENSP00000514757.1:n.981+1G>A | |
| ENST00000700022.1:c.*365+1G>A | ENSP00000514758.1:n.*365+1G>A | |
| ENST00000700023.1:n.2184+1G>A | ||
| ENST00000700024.1:n.2418+1G>A | ||
| ENST00000700025.1:n.1796G>A | ||
| ENST00000700026.1:n.664G>A | ||
| ENST00000706954.1:c.1026+1G>A | ENSP00000516674.1:n.1026+1G>A | |
| ENST00000706955.1:c.*1061+1G>A | ENSP00000516675.1:n.*1061+1G>A | |
| ENST00000686459.1:c.*612+1G>A | ENSP00000508909.1:n.*612+1G>A | |
| ENST00000688158.1:c.*1137+1G>A | ENSP00000509254.1:n.*1137+1G>A | |
| ENST00000688308.1:c.1026+1G>A | ENSP00000508752.1:n.1026+1G>A | |
| ENST00000688922.1:c.947+1G>A | ||
| ENST00000693560.1:c.1545+1G>A | ENSP00000509861.1:n.1545+1G>A | |
| ENST00000371953.8:c.1026+1G>A MANE Select | ENSP00000361021.3:n.1026+1G>A | |
| ENST00000371953.7:c.1026+1G>A | ENSP00000361021.3:n.1026+1G>A | |
| ENST00000472832.2:c.454G>A | ENSP00000483066.1:p.Val152Ile | |
| NM_000314.5:c.1026+1G>A | NP_000305.3:n.1026+1G>A | |
| NM_000314.6:c.1026+1G>A | NP_000305.3:n.1026+1G>A | |
| NM_001304717.2:c.1545+1G>A | NP_001291646.2:n.1545+1G>A | |
| NM_001304718.1:c.435+1G>A | NP_001291647.1:n.435+1G>A | |
| XM_006717926.2:c.981+1G>A | XP_006717989.1:n.981+1G>A | |
| XM_011539981.1:c.1026+1G>A | XP_011538283.1:n.1026+1G>A | |
| XM_011539982.1:c.930+1G>A | XP_011538284.1:n.930+1G>A | |
| XR_945791.1:n.1596+1G>A | ||
| NM_000314.7:c.1026+1G>A | NP_000305.3:n.1026+1G>A | |
| NM_001304717.5:c.1545+1G>A | NP_001291646.4:n.1545+1G>A | |
| NM_001304718.2:c.435+1G>A | NP_001291647.1:n.435+1G>A | |
| NM_000314.8:c.1026+1G>A MANE Select | NP_000305.3:n.1026+1G>A |