Linked Data
ClinVar Variation Id:
141485
dbSNP Id:
rs587781784
gnomAD v4:
10-87952116-A-G
COSMIC:
COSM5963
MutSpliceDB:
CA000478
ERepo:
CA000478/MONDO:0017623/003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87952116A>G , CM000672.2:g.87952116A>G | GRCh38 |
| NC_000010.10:g.89711873A>G , CM000672.1:g.89711873A>G | GRCh37 |
| NC_000010.9:g.89701853A>G | NCBI36 |
| NG_007466.2:g.93678A>G , LRG_311:g.93678A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.493-2A>G | ENSP00000514759.2:n.493-2A>G | |
| ENST00000710265.1:c.493-2A>G | ENSP00000518161.1:n.493-2A>G | |
| ENST00000472832.3:c.493-2A>G | ENSP00000483066.2:n.493-2A>G | |
| ENST00000688158.2:n.1228-2A>G | ||
| ENST00000688922.2:c.*323-2A>G | ENSP00000508742.2:n.*323-2A>G | |
| ENST00000700021.1:c.448-2A>G | ENSP00000514757.1:n.448-2A>G | |
| ENST00000700022.1:c.493-5737A>G | ENSP00000514758.1:n.493-5737A>G | |
| ENST00000700023.1:n.1651-2A>G | ||
| ENST00000700024.1:n.1883A>G | ||
| ENST00000700025.1:n.1260A>G | ||
| ENST00000700029.1:c.327-2A>G | ||
| ENST00000706954.1:c.493-2A>G | ENSP00000516674.1:n.493-2A>G | |
| ENST00000706955.1:c.*528-2A>G | ENSP00000516675.1:n.*528-2A>G | |
| ENST00000686459.1:c.*79-2A>G | ENSP00000508909.1:n.*79-2A>G | |
| ENST00000688158.1:c.*604-2A>G | ENSP00000509254.1:n.*604-2A>G | |
| ENST00000688308.1:c.493-2A>G | ENSP00000508752.1:n.493-2A>G | |
| ENST00000688922.1:c.414-2A>G | ||
| ENST00000693560.1:c.1012-2A>G | ENSP00000509861.1:n.1012-2A>G | |
| ENST00000371953.8:c.493-2A>G MANE Select | ENSP00000361021.3:n.493-2A>G | |
| ENST00000371953.7:c.493-2A>G | ENSP00000361021.3:n.493-2A>G | |
| NM_000314.5:c.493-2A>G | NP_000305.3:n.493-2A>G | |
| NM_000314.6:c.493-2A>G | NP_000305.3:n.493-2A>G | |
| NM_001304717.2:c.1012-2A>G | NP_001291646.2:n.1012-2A>G | |
| NM_001304718.1:c.-99-2A>G | NP_001291647.1:n.-99-2A>G | |
| XM_006717926.2:c.448-2A>G | XP_006717989.1:n.448-2A>G | |
| XM_011539981.1:c.493-2A>G | XP_011538283.1:n.493-2A>G | |
| XM_011539982.1:c.397-2A>G | XP_011538284.1:n.397-2A>G | |
| XR_945789.1:n.1364-2A>G | ||
| XR_945790.1:n.1481-2A>G | ||
| XR_945791.1:n.1205-5737A>G | ||
| NM_000314.7:c.493-2A>G | NP_000305.3:n.493-2A>G | |
| NM_001304717.5:c.1012-2A>G | NP_001291646.4:n.1012-2A>G | |
| NM_001304718.2:c.-99-2A>G | NP_001291647.1:n.-99-2A>G | |
| NM_000314.8:c.493-2A>G MANE Select | NP_000305.3:n.493-2A>G |