Linked Data
dbSNP Id:
rs1160480473
gnomAD v2:
16-88908359-C-T
gnomAD v3:
16-88841951-C-T
gnomAD v4:
16-88841951-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88841951C>T , CM000678.2:g.88841951C>T | GRCh38 |
| NC_000016.9:g.88908359C>T , CM000678.1:g.88908359C>T | GRCh37 |
| NC_000016.8:g.87435860C>T | NCBI36 |
| NG_008667.1:g.20016G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000268695.10:c.265G>A MANE Select | ENSP00000268695.5:p.Gly89Arg | |
| ENST00000268695.9:c.265G>A | ENSP00000268695.5:p.Gly89Arg | |
| ENST00000562593.5:n.3674G>A | ||
| ENST00000562831.1:c.49G>A | ENSP00000455174.1:p.Gly17Arg | |
| ENST00000565364.1:n.400G>A | ||
| ENST00000567525.5:c.90G>A | ENSP00000454484.1:p.Gln30= | |
| ENST00000567779.1:n.95G>A | ||
| ENST00000568613.5:c.384G>A | ENSP00000457921.1:n.384G>A | |
| NM_000512.4:c.265G>A | NP_000503.1:p.Gly89Arg | |
| XM_005256301.2:c.265G>A | XP_005256358.1:p.Gly89Arg | |
| XM_005256302.1:c.283G>A | XP_005256359.1:p.Gly95Arg | |
| XM_011522982.1:c.283G>A | XP_011521284.1:p.Gly95Arg | |
| XM_011522984.1:c.283G>A | XP_011521286.1:p.Gly95Arg | |
| NM_001323543.1:c.-291G>A | NP_001310472.1:n.-291G>A | |
| NM_001323544.1:c.283G>A | NP_001310473.1:p.Gly95Arg | |
| XM_005256301.3:c.265G>A | XP_005256358.1:p.Gly89Arg | |
| XM_011522982.2:c.283G>A | XP_011521284.1:p.Gly95Arg | |
| XM_017023111.2:c.283G>A | XP_016878600.1:p.Gly95Arg | |
| XM_017023112.2:c.283G>A | XP_016878601.1:p.Gly95Arg | |
| XM_017023113.1:c.-291G>A | XP_016878602.1:n.-291G>A | |
| NM_000512.5:c.265G>A MANE Select | NP_000503.1:p.Gly89Arg | |
| NM_001323543.2:c.-291G>A | NP_001310472.1:n.-291G>A | |
| NM_001323544.2:c.283G>A | NP_001310473.1:p.Gly95Arg |