Linked Data
ClinVar Variation Id:
280031
dbSNP Id:
rs138336847
gnomAD v2:
10-89712021-G-A
gnomAD v4:
10-87952264-G-A
COSMIC:
COSM1577266
ERepo:
CA10603167/MONDO:0017623/003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87952264G>A , CM000672.2:g.87952264G>A | GRCh38 |
| NC_000010.10:g.89712021G>A , CM000672.1:g.89712021G>A | GRCh37 |
| NC_000010.9:g.89702001G>A | NCBI36 |
| NG_007466.2:g.93826G>A , LRG_311:g.93826G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.634+5G>A | ENSP00000514759.2:n.634+5G>A | |
| ENST00000710265.1:c.634+5G>A | ENSP00000518161.1:n.634+5G>A | |
| ENST00000472832.3:c.634+5G>A | ENSP00000483066.2:n.634+5G>A | |
| ENST00000688158.2:n.1369+5G>A | ||
| ENST00000688922.2:c.*464+5G>A | ENSP00000508742.2:n.*464+5G>A | |
| ENST00000700021.1:c.589+5G>A | ENSP00000514757.1:n.589+5G>A | |
| ENST00000700022.1:c.493-5589G>A | ENSP00000514758.1:n.493-5589G>A | |
| ENST00000700023.1:n.1792+5G>A | ||
| ENST00000700024.1:n.2026+5G>A | ||
| ENST00000700025.1:n.1403+5G>A | ||
| ENST00000700029.1:c.468+5G>A | ||
| ENST00000706954.1:c.634+5G>A | ENSP00000516674.1:n.634+5G>A | |
| ENST00000706955.1:c.*669+5G>A | ENSP00000516675.1:n.*669+5G>A | |
| ENST00000686459.1:c.*220+5G>A | ENSP00000508909.1:n.*220+5G>A | |
| ENST00000688158.1:c.*745+5G>A | ENSP00000509254.1:n.*745+5G>A | |
| ENST00000688308.1:c.634+5G>A | ENSP00000508752.1:n.634+5G>A | |
| ENST00000688922.1:c.555+5G>A | ||
| ENST00000693560.1:c.1153+5G>A | ENSP00000509861.1:n.1153+5G>A | |
| ENST00000371953.8:c.634+5G>A MANE Select | ENSP00000361021.3:n.634+5G>A | |
| ENST00000371953.7:c.634+5G>A | ENSP00000361021.3:n.634+5G>A | |
| ENST00000472832.2:c.61+5G>A | ENSP00000483066.1:n.61+5G>A | |
| NM_000314.5:c.634+5G>A | NP_000305.3:n.634+5G>A | |
| NM_000314.6:c.634+5G>A | NP_000305.3:n.634+5G>A | |
| NM_001304717.2:c.1153+5G>A | NP_001291646.2:n.1153+5G>A | |
| NM_001304718.1:c.43+5G>A | NP_001291647.1:n.43+5G>A | |
| XM_006717926.2:c.589+5G>A | XP_006717989.1:n.589+5G>A | |
| XM_011539981.1:c.634+5G>A | XP_011538283.1:n.634+5G>A | |
| XM_011539982.1:c.538+5G>A | XP_011538284.1:n.538+5G>A | |
| XR_945791.1:n.1205-5589G>A | ||
| NM_000314.7:c.634+5G>A | NP_000305.3:n.634+5G>A | |
| NM_001304717.5:c.1153+5G>A | NP_001291646.4:n.1153+5G>A | |
| NM_001304718.2:c.43+5G>A | NP_001291647.1:n.43+5G>A | |
| NM_000314.8:c.634+5G>A MANE Select | NP_000305.3:n.634+5G>A |