Linked Data
ClinVar Variation Id:
184020
dbSNP Id:
rs189583426
ExAC:
10:89653861 A / G
gnomAD v2:
10-89653861-A-G
gnomAD v3:
10-87894104-A-G
gnomAD v4:
10-87894104-A-G
ERepo:
CA000127/MONDO:0017623/003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87894104A>G , CM000672.2:g.87894104A>G | GRCh38 |
| NC_000010.10:g.89653861A>G , CM000672.1:g.89653861A>G | GRCh37 |
| NC_000010.9:g.89643841A>G | NCBI36 |
| NG_007466.2:g.35666A>G , LRG_311:g.35666A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.159A>G | ENSP00000514759.2:p.Val53= | |
| ENST00000710265.1:c.159A>G | ENSP00000518161.1:p.Val53= | |
| ENST00000472832.3:c.159A>G | ENSP00000483066.2:p.Val53= | |
| ENST00000688158.2:n.899+13666A>G | ||
| ENST00000688922.2:c.159A>G | ENSP00000508742.2:p.Val53= | |
| ENST00000700021.1:c.159A>G | ENSP00000514757.1:p.Val53= | |
| ENST00000700022.1:c.159A>G | ENSP00000514758.1:p.Val53= | |
| ENST00000706954.1:c.159A>G | ENSP00000516674.1:p.Val53= | |
| ENST00000706955.1:c.*194A>G | ENSP00000516675.1:n.*194A>G | |
| ENST00000686459.1:c.159A>G | ENSP00000508909.1:p.Val53= | |
| ENST00000688158.1:c.*275+13666A>G | ENSP00000509254.1:n.*275+13666A>G | |
| ENST00000688308.1:c.159A>G | ENSP00000508752.1:p.Val53= | |
| ENST00000688922.1:c.28A>G | ||
| ENST00000693560.1:c.678A>G | ENSP00000509861.1:p.Val226= | |
| ENST00000371953.8:c.159A>G MANE Select | ENSP00000361021.3:p.Val53= | |
| ENST00000371953.7:c.159A>G | ENSP00000361021.3:p.Val53= | |
| ENST00000462694.1:n.161A>G | ||
| ENST00000610634.1:c.57A>G | ENSP00000477517.1:p.Val19= | |
| NM_000314.5:c.159A>G | NP_000305.3:p.Val53= | |
| NM_000314.6:c.159A>G | NP_000305.3:p.Val53= | |
| NM_001304717.2:c.678A>G | NP_001291646.2:p.Val226= | |
| NM_001304718.1:c.-547A>G | NP_001291647.1:n.-547A>G | |
| XM_006717926.2:c.159A>G | XP_006717989.1:p.Val53= | |
| XM_011539981.1:c.159A>G | XP_011538283.1:p.Val53= | |
| XM_011539982.1:c.68+13666A>G | XP_011538284.1:n.68+13666A>G | |
| XR_945789.1:n.871A>G | ||
| XR_945790.1:n.871A>G | ||
| XR_945791.1:n.871A>G | ||
| NM_000314.7:c.159A>G | NP_000305.3:p.Val53= | |
| NM_001304717.5:c.678A>G | NP_001291646.4:p.Val226= | |
| NM_001304718.2:c.-547A>G | NP_001291647.1:n.-547A>G | |
| NM_000314.8:c.159A>G MANE Select | NP_000305.3:p.Val53= |