Linked Data
ClinVar Variation Id:
127692
dbSNP Id:
rs374331677
ExAC:
10:89624312 A / G
gnomAD v2:
10-89624312-A-G
gnomAD v3:
10-87864555-A-G
gnomAD v4:
10-87864555-A-G
PubMed:
PMID:28677221
ERepo:
CA000580/MONDO:0017623/003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87864555A>G , CM000672.2:g.87864555A>G | GRCh38 |
| NC_000010.10:g.89624312A>G , CM000672.1:g.89624312A>G | GRCh37 |
| NC_000010.9:g.89614292A>G | NCBI36 |
| NG_007466.2:g.6117A>G , LRG_311:g.6117A>G | |
| NG_033079.1:g.3883T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000700029.2:c.79+7A>G | ENSP00000514759.2:n.79+7A>G | |
| ENST00000710265.1:c.79+7A>G | ENSP00000518161.1:n.79+7A>G | |
| ENST00000472832.3:c.79+7A>G | ENSP00000483066.2:n.79+7A>G | |
| ENST00000688922.2:c.79+7A>G | ENSP00000508742.2:n.79+7A>G | |
| ENST00000700021.1:c.79+7A>G | ENSP00000514757.1:n.79+7A>G | |
| ENST00000700022.1:c.79+7A>G | ENSP00000514758.1:n.79+7A>G | |
| ENST00000706954.1:c.79+7A>G | ENSP00000516674.1:n.79+7A>G | |
| ENST00000706955.1:c.79+7A>G | ENSP00000516675.1:n.79+7A>G | |
| ENST00000686459.1:c.79+7A>G | ENSP00000508909.1:n.79+7A>G | |
| ENST00000688158.1:c.79+7A>G | ENSP00000509254.1:n.79+7A>G | |
| ENST00000688308.1:c.79+7A>G | ENSP00000508752.1:n.79+7A>G | |
| ENST00000693560.1:c.598+7A>G | ENSP00000509861.1:n.598+7A>G | |
| ENST00000371953.8:c.79+7A>G MANE Select | ENSP00000361021.3:n.79+7A>G | |
| ENST00000371953.7:c.79+7A>G | ENSP00000361021.3:n.79+7A>G | |
| ENST00000462694.1:n.81+7A>G | ||
| ENST00000487939.1:n.100+7A>G | ||
| ENST00000610634.1:c.-24+7A>G | ENSP00000477517.1:n.-24+7A>G | |
| ENST00000618586.1:n.55A>G | ||
| NM_000314.5:c.79+7A>G | NP_000305.3:n.79+7A>G | |
| NM_000314.6:c.79+7A>G | NP_000305.3:n.79+7A>G | |
| NM_001304717.2:c.598+7A>G | NP_001291646.2:n.598+7A>G | |
| NM_001304718.1:c.-627+7A>G | NP_001291647.1:n.-627+7A>G | |
| XM_006717926.2:c.79+7A>G | XP_006717989.1:n.79+7A>G | |
| XM_011539981.1:c.79+7A>G | XP_011538283.1:n.79+7A>G | |
| XR_945789.1:n.791+7A>G | ||
| XR_945790.1:n.791+7A>G | ||
| XR_945791.1:n.791+7A>G | ||
| NM_000314.7:c.79+7A>G | NP_000305.3:n.79+7A>G | |
| NM_001304717.5:c.598+7A>G | NP_001291646.4:n.598+7A>G | |
| NM_001304718.2:c.-627+7A>G | NP_001291647.1:n.-627+7A>G | |
| NM_000314.8:c.79+7A>G MANE Select | NP_000305.3:n.79+7A>G |