Linked Data
ClinVar Variation Id:
142423
dbSNP Id:
rs587782455
gnomAD v2:
10-89720649-A-T
gnomAD v3:
10-87960892-A-T
gnomAD v4:
10-87960892-A-T
COSMIC:
COSM13731
ERepo:
CA000591/MONDO:0017623/003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87960892A>T , CM000672.2:g.87960892A>T | GRCh38 |
| NC_000010.10:g.89720649A>T , CM000672.1:g.89720649A>T | GRCh37 |
| NC_000010.9:g.89710629A>T | NCBI36 |
| NG_007466.2:g.102454A>T , LRG_311:g.102454A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.895-2A>T | ENSP00000514759.2:n.895-2A>T | |
| ENST00000710265.1:c.802-2A>T | ENSP00000518161.1:n.802-2A>T | |
| ENST00000472832.3:c.802-2A>T | ENSP00000483066.2:n.802-2A>T | |
| ENST00000688158.2:n.1537-2A>T | ||
| ENST00000688922.2:c.*632-2A>T | ENSP00000508742.2:n.*632-2A>T | |
| ENST00000700021.1:c.757-2A>T | ENSP00000514757.1:n.757-2A>T | |
| ENST00000700022.1:c.*141-2A>T | ENSP00000514758.1:n.*141-2A>T | |
| ENST00000700023.1:n.1960-2A>T | ||
| ENST00000700024.1:n.2194-2A>T | ||
| ENST00000700025.1:n.1571-2A>T | ||
| ENST00000700026.1:n.439-2A>T | ||
| ENST00000700029.1:c.729-2A>T | ||
| ENST00000706954.1:c.802-2A>T | ENSP00000516674.1:n.802-2A>T | |
| ENST00000706955.1:c.*837-2A>T | ENSP00000516675.1:n.*837-2A>T | |
| ENST00000686459.1:c.*388-2A>T | ENSP00000508909.1:n.*388-2A>T | |
| ENST00000688158.1:c.*913-2A>T | ENSP00000509254.1:n.*913-2A>T | |
| ENST00000688308.1:c.802-2A>T | ENSP00000508752.1:n.802-2A>T | |
| ENST00000688922.1:c.723-2A>T | ||
| ENST00000693560.1:c.1321-2A>T | ENSP00000509861.1:n.1321-2A>T | |
| ENST00000371953.8:c.802-2A>T MANE Select | ENSP00000361021.3:n.802-2A>T | |
| ENST00000371953.7:c.802-2A>T | ENSP00000361021.3:n.802-2A>T | |
| ENST00000472832.2:c.229-2A>T | ENSP00000483066.1:n.229-2A>T | |
| NM_000314.5:c.802-2A>T | NP_000305.3:n.802-2A>T | |
| NM_000314.6:c.802-2A>T | NP_000305.3:n.802-2A>T | |
| NM_001304717.2:c.1321-2A>T | NP_001291646.2:n.1321-2A>T | |
| NM_001304718.1:c.211-2A>T | NP_001291647.1:n.211-2A>T | |
| XM_006717926.2:c.757-2A>T | XP_006717989.1:n.757-2A>T | |
| XM_011539981.1:c.802-2A>T | XP_011538283.1:n.802-2A>T | |
| XM_011539982.1:c.706-2A>T | XP_011538284.1:n.706-2A>T | |
| XR_945791.1:n.1372-2A>T | ||
| NM_000314.7:c.802-2A>T | NP_000305.3:n.802-2A>T | |
| NM_001304717.5:c.1321-2A>T | NP_001291646.4:n.1321-2A>T | |
| NM_001304718.2:c.211-2A>T | NP_001291647.1:n.211-2A>T | |
| NM_000314.8:c.802-2A>T MANE Select | NP_000305.3:n.802-2A>T |