Linked Data
ClinVar Variation Id:
2189409
ClinVar RCV Id:
RCV002607337
dbSNP Id:
rs779571840
ExAC:
8:61773597 G / A
gnomAD v2:
8-61773597-G-A
gnomAD v4:
8-60861038-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60861038G>A , CM000670.2:g.60861038G>A | GRCh38 |
| NC_000008.10:g.61773597G>A , CM000670.1:g.61773597G>A | GRCh37 |
| NC_000008.9:g.61936151G>A | NCBI36 |
| NG_007009.1:g.187259G>A , LRG_176:g.187259G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695850.1:n.919G>A | ||
| ENST00000695851.1:n.123G>A | ||
| ENST00000695853.1:c.*802G>A | ENSP00000512218.1:n.*802G>A | |
| ENST00000423902.7:c.7743G>A MANE Select | ENSP00000392028.1:p.Val2581= | |
| ENST00000423902.6:c.7743G>A | ENSP00000392028.1:p.Val2581= | |
| ENST00000524602.5:c.1717-1191G>A | ENSP00000437061.1:n.1717-1191G>A | |
| ENST00000531695.1:n.167G>A | ||
| ENST00000618450.1:n.135G>A | ||
| NM_001316690.1:c.1717-1191G>A | NP_001303619.1:n.1717-1191G>A | |
| NM_017780.3:c.7743G>A | NP_060250.2:p.Val2581= | |
| XM_011517553.1:c.7833G>A | XP_011515855.1:p.Val2611= | |
| XM_011517554.1:c.7833G>A | XP_011515856.1:p.Val2611= | |
| XM_011517555.1:c.7830G>A | XP_011515857.1:p.Val2610= | |
| XM_011517556.1:c.7699-1158G>A | XP_011515858.1:n.7699-1158G>A | |
| XM_011517557.1:c.5820G>A | XP_011515859.1:p.Val1940= | |
| XM_011517558.1:c.5370G>A | XP_011515860.1:p.Val1790= | |
| XM_011517559.1:c.4578G>A | XP_011515861.1:p.Val1526= | |
| XM_011517553.2:c.7833G>A | XP_011515855.1:p.Val2611= | |
| XM_011517554.3:c.7833G>A | XP_011515856.1:p.Val2611= | |
| XM_011517555.2:c.7830G>A | XP_011515857.1:p.Val2610= | |
| XM_017013612.1:c.7833G>A | XP_016869101.1:p.Val2611= | |
| XM_017013613.1:c.7740G>A | XP_016869102.1:p.Val2580= | |
| NM_017780.4:c.7743G>A MANE Select | NP_060250.2:p.Val2581= |