Linked Data
dbSNP Id:
rs1436536670
gnomAD v2:
1-8420379-C-G
gnomAD v3:
1-8360319-C-G
gnomAD v4:
1-8360319-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.8360319C>G , CM000663.2:g.8360319C>G | GRCh38 |
| NC_000001.10:g.8420379C>G , CM000663.1:g.8420379C>G | GRCh37 |
| NC_000001.9:g.8342966C>G | NCBI36 |
| NG_047035.1:g.462373G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465125.2:c.1526G>C | ENSP00000515651.1:p.Gly509Ala | |
| ENST00000400908.7:c.3188G>C MANE Select | ENSP00000383700.2:p.Gly1063Ala | |
| ENST00000337907.7:c.3188G>C | ENSP00000338629.3:p.Gly1063Ala | |
| ENST00000377464.5:c.2384G>C | ENSP00000366684.1:p.Gly795Ala | |
| ENST00000400907.6:c.1540+4427G>C | ENSP00000383699.2:n.1540+4427G>C | |
| ENST00000400908.6:c.3188G>C | ENSP00000383700.2:p.Gly1063Ala | |
| ENST00000476556.5:c.1526G>C | ENSP00000422246.1:p.Gly509Ala | |
| ENST00000505225.1:c.307+1141G>C | ENSP00000423451.1:n.307+1141G>C | |
| NM_001042681.1:c.3188G>C | NP_001036146.1:p.Gly1063Ala | |
| NM_001042682.1:c.1526G>C | NP_001036147.1:p.Gly509Ala | |
| NM_012102.3:c.3188G>C | NP_036234.3:p.Gly1063Ala | |
| XM_005263464.1:c.3188G>C | XP_005263521.1:p.Gly1063Ala | |
| XM_005263466.1:c.2384G>C | XP_005263523.1:p.Gly795Ala | |
| XM_006710653.1:c.3188G>C | XP_006710716.1:p.Gly1063Ala | |
| XM_011541510.1:c.3062G>C | XP_011539812.1:p.Gly1021Ala | |
| XM_011541511.1:c.3188G>C | XP_011539813.1:p.Gly1063Ala | |
| XM_005263464.2:c.3188G>C | XP_005263521.1:p.Gly1063Ala | |
| XM_011541510.2:c.3062G>C | XP_011539812.1:p.Gly1021Ala | |
| XM_011541511.2:c.3188G>C | XP_011539813.1:p.Gly1063Ala | |
| XM_017001358.1:c.3188G>C | XP_016856847.1:p.Gly1063Ala | |
| XM_017001359.1:c.3188G>C | XP_016856848.1:p.Gly1063Ala | |
| NM_001042681.2:c.3188G>C MANE Select | NP_001036146.1:p.Gly1063Ala | |
| NM_001042682.2:c.1526G>C | NP_001036147.1:p.Gly509Ala | |
| NM_012102.4:c.3188G>C | NP_036234.3:p.Gly1063Ala |