Linked Data
ClinVar Variation Id:
7712
dbSNP Id:
rs80338704
ExAC:
16:8906887 A / G
gnomAD v2:
16-8906887-A-G
gnomAD v3:
16-8813030-A-G
gnomAD v4:
16-8813030-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8813030A>G , CM000678.2:g.8813030A>G | GRCh38 |
| NC_000016.9:g.8906887A>G , CM000678.1:g.8906887A>G | GRCh37 |
| NC_000016.8:g.8814388A>G | NCBI36 |
| NG_009209.1:g.20218A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000567697.2:n.3731A>G | ||
| ENST00000682008.1:c.563A>G | ENSP00000507849.1:p.Asp188Gly | |
| ENST00000682393.1:c.*181A>G | ENSP00000506774.1:n.*181A>G | |
| ENST00000683094.1:c.*185A>G | ENSP00000508230.1:n.*185A>G | |
| ENST00000683274.1:c.*103A>G | ENSP00000507262.1:n.*103A>G | |
| ENST00000683435.1:c.*459A>G | ENSP00000508092.1:n.*459A>G | |
| ENST00000268261.9:c.563A>G MANE Select | ENSP00000268261.4:p.Asp188Gly | |
| ENST00000268261.8:c.563A>G | ENSP00000268261.4:p.Asp188Gly | |
| ENST00000562318.5:c.*285A>G | ENSP00000454395.1:n.*285A>G | |
| ENST00000564069.1:c.530A>G | ||
| ENST00000565221.5:c.*181A>G | ENSP00000457932.1:n.*181A>G | |
| ENST00000566540.5:c.*185A>G | ENSP00000454284.1:n.*185A>G | |
| ENST00000566604.5:c.*103A>G | ENSP00000456774.1:n.*103A>G | |
| ENST00000566983.5:c.482A>G | ENSP00000457956.1:p.Asp161Gly | |
| ENST00000567697.1:n.3731A>G | ||
| ENST00000569958.5:c.290A>G | ENSP00000456302.1:p.Asp97Gly | |
| ENST00000570076.5:c.*21A>G | ENSP00000456961.1:n.*21A>G | |
| ENST00000570134.5:c.*185A>G | ENSP00000456275.1:n.*185A>G | |
| NM_000303.2:c.563A>G | NP_000294.1:p.Asp188Gly | |
| XM_005255372.3:c.563A>G | XP_005255429.1:p.Asp188Gly | |
| XM_005255373.3:c.314A>G | XP_005255430.1:p.Asp105Gly | |
| XM_005255374.3:c.314A>G | XP_005255431.1:p.Asp105Gly | |
| XM_011522538.1:c.563A>G | XP_011520840.1:p.Asp188Gly | |
| XM_011522539.1:c.188A>G | XP_011520841.1:p.Asp63Gly | |
| XM_005255374.4:c.314A>G | XP_005255431.1:p.Asp105Gly | |
| NM_000303.3:c.563A>G MANE Select | NP_000294.1:p.Asp188Gly |