Linked Data
ClinVar Variation Id:
404144
dbSNP Id:
rs1060500112
gnomAD v3:
10-87931093-G-A
gnomAD v4:
10-87931093-G-A
ERepo:
CA16613005/MONDO:0017623/003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87931093G>A , CM000672.2:g.87931093G>A | GRCh38 |
| NC_000010.10:g.89690850G>A , CM000672.1:g.89690850G>A | GRCh37 |
| NC_000010.9:g.89680830G>A | NCBI36 |
| NG_007466.2:g.72655G>A , LRG_311:g.72655G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.253+4G>A | ENSP00000514759.2:n.253+4G>A | |
| ENST00000710265.1:c.253+4G>A | ENSP00000518161.1:n.253+4G>A | |
| ENST00000472832.3:c.253+4G>A | ENSP00000483066.2:n.253+4G>A | |
| ENST00000688158.2:n.988+4G>A | ||
| ENST00000688922.2:c.*83+4G>A | ENSP00000508742.2:n.*83+4G>A | |
| ENST00000700021.1:c.208+4G>A | ENSP00000514757.1:n.208+4G>A | |
| ENST00000700022.1:c.253+4G>A | ENSP00000514758.1:n.253+4G>A | |
| ENST00000700029.1:c.87+4G>A | ||
| ENST00000706954.1:c.253+4G>A | ENSP00000516674.1:n.253+4G>A | |
| ENST00000706955.1:c.*288+4G>A | ENSP00000516675.1:n.*288+4G>A | |
| ENST00000686459.1:c.253+4G>A | ENSP00000508909.1:n.253+4G>A | |
| ENST00000688158.1:c.*364+4G>A | ENSP00000509254.1:n.*364+4G>A | |
| ENST00000688308.1:c.253+4G>A | ENSP00000508752.1:n.253+4G>A | |
| ENST00000688922.1:c.174+4G>A | ||
| ENST00000693560.1:c.772+4G>A | ENSP00000509861.1:n.772+4G>A | |
| ENST00000371953.8:c.253+4G>A MANE Select | ENSP00000361021.3:n.253+4G>A | |
| ENST00000371953.7:c.253+4G>A | ENSP00000361021.3:n.253+4G>A | |
| ENST00000498703.1:n.79+4G>A | ||
| ENST00000610634.1:c.151+4G>A | ENSP00000477517.1:n.151+4G>A | |
| NM_000314.5:c.253+4G>A | NP_000305.3:n.253+4G>A | |
| NM_000314.6:c.253+4G>A | NP_000305.3:n.253+4G>A | |
| NM_001304717.2:c.772+4G>A | NP_001291646.2:n.772+4G>A | |
| NM_001304718.1:c.-498+4G>A | NP_001291647.1:n.-498+4G>A | |
| XM_006717926.2:c.208+4G>A | XP_006717989.1:n.208+4G>A | |
| XM_011539981.1:c.253+4G>A | XP_011538283.1:n.253+4G>A | |
| XM_011539982.1:c.157+4G>A | XP_011538284.1:n.157+4G>A | |
| XR_945789.1:n.965+4G>A | ||
| XR_945790.1:n.965+4G>A | ||
| XR_945791.1:n.965+4G>A | ||
| NM_000314.7:c.253+4G>A | NP_000305.3:n.253+4G>A | |
| NM_001304717.5:c.772+4G>A | NP_001291646.4:n.772+4G>A | |
| NM_001304718.2:c.-498+4G>A | NP_001291647.1:n.-498+4G>A | |
| NM_000314.8:c.253+4G>A MANE Select | NP_000305.3:n.253+4G>A |