Linked Data
dbSNP Id:
rs1319385402
gnomAD v2:
1-16381983-A-G
gnomAD v3:
1-16055488-A-G
gnomAD v4:
1-16055488-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16055488A>G , CM000663.2:g.16055488A>G | GRCh38 |
| NC_000001.10:g.16381983A>G , CM000663.1:g.16381983A>G | GRCh37 |
| NC_000001.9:g.16254570A>G | NCBI36 |
| NG_013079.1:g.16737A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682338.1:c.1810A>G | ENSP00000507062.1:p.Lys604Glu | |
| ENST00000682793.1:c.1810A>G | ENSP00000506910.1:p.Lys604Glu | |
| ENST00000682838.1:c.*1552A>G | ENSP00000507652.1:n.*1552A>G | |
| ENST00000683578.1:c.1810A>G | ENSP00000507430.1:p.Lys604Glu | |
| ENST00000683606.1:n.1416A>G | ||
| ENST00000683661.1:n.3345A>G | ||
| ENST00000684324.1:c.1810A>G | ENSP00000507937.1:p.Lys604Glu | |
| ENST00000684545.1:c.1810A>G | ENSP00000506733.1:p.Lys604Glu | |
| ENST00000684624.1:n.1187A>G | ||
| ENST00000684714.1:c.*30A>G | ENSP00000506861.1:n.*30A>G | |
| ENST00000684731.1:n.1137A>G | ||
| ENST00000375679.9:c.1810A>G MANE Select | ENSP00000364831.5:p.Lys604Glu | |
| ENST00000375667.7:c.1303A>G | ENSP00000364819.3:p.Lys435Glu | |
| ENST00000375679.8:c.1810A>G | ENSP00000364831.4:p.Lys604Glu | |
| ENST00000431772.1:c.277A>G | ENSP00000389344.1:p.Lys93Glu | |
| ENST00000619181.4:c.1294-1699A>G | ENSP00000483866.1:n.1294-1699A>G | |
| NM_000085.4:c.1810A>G | NP_000076.2:p.Lys604Glu | |
| NM_001165945.2:c.1303A>G | NP_001159417.2:p.Lys435Glu | |
| XM_011540619.1:c.1651A>G | XP_011538921.1:p.Lys551Glu | |
| XM_011540621.1:c.1159A>G | XP_011538923.1:p.Lys387Glu | |
| NM_000085.5:c.1810A>G MANE Select | NP_000076.2:p.Lys604Glu |