Linked Data
ClinVar Variation Id:
1586583
dbSNP Id:
rs746591351
ExAC:
8:61773600 G / A
gnomAD v2:
8-61773600-G-A
gnomAD v3:
8-60861041-G-A
gnomAD v4:
8-60861041-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60861041G>A , CM000670.2:g.60861041G>A | GRCh38 |
| NC_000008.10:g.61773600G>A , CM000670.1:g.61773600G>A | GRCh37 |
| NC_000008.9:g.61936154G>A | NCBI36 |
| NG_007009.1:g.187262G>A , LRG_176:g.187262G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695850.1:n.922G>A | ||
| ENST00000695851.1:n.126G>A | ||
| ENST00000695853.1:c.*805G>A | ENSP00000512218.1:n.*805G>A | |
| ENST00000423902.7:c.7746G>A MANE Select | ENSP00000392028.1:p.Gly2582= | |
| ENST00000423902.6:c.7746G>A | ENSP00000392028.1:p.Gly2582= | |
| ENST00000524602.5:c.1717-1188G>A | ENSP00000437061.1:n.1717-1188G>A | |
| ENST00000531695.1:n.170G>A | ||
| ENST00000618450.1:n.138G>A | ||
| NM_001316690.1:c.1717-1188G>A | NP_001303619.1:n.1717-1188G>A | |
| NM_017780.3:c.7746G>A | NP_060250.2:p.Gly2582= | |
| XM_011517553.1:c.7836G>A | XP_011515855.1:p.Gly2612= | |
| XM_011517554.1:c.7836G>A | XP_011515856.1:p.Gly2612= | |
| XM_011517555.1:c.7833G>A | XP_011515857.1:p.Gly2611= | |
| XM_011517556.1:c.7699-1155G>A | XP_011515858.1:n.7699-1155G>A | |
| XM_011517557.1:c.5823G>A | XP_011515859.1:p.Gly1941= | |
| XM_011517558.1:c.5373G>A | XP_011515860.1:p.Gly1791= | |
| XM_011517559.1:c.4581G>A | XP_011515861.1:p.Gly1527= | |
| XM_011517553.2:c.7836G>A | XP_011515855.1:p.Gly2612= | |
| XM_011517554.3:c.7836G>A | XP_011515856.1:p.Gly2612= | |
| XM_011517555.2:c.7833G>A | XP_011515857.1:p.Gly2611= | |
| XM_017013612.1:c.7836G>A | XP_016869101.1:p.Gly2612= | |
| XM_017013613.1:c.7743G>A | XP_016869102.1:p.Gly2581= | |
| NM_017780.4:c.7746G>A MANE Select | NP_060250.2:p.Gly2582= |