Linked Data
dbSNP Id:
rs775110746
ExAC:
1:186143667 G / A
gnomAD v2:
1-186143667-G-A
gnomAD v3:
1-186174535-G-A
gnomAD v4:
1-186174535-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186174535G>A , CM000663.2:g.186174535G>A | GRCh38 |
| NC_000001.10:g.186143667G>A , CM000663.1:g.186143667G>A | GRCh37 |
| NC_000001.9:g.184410290G>A | NCBI36 |
| NG_011841.1:g.444985G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.15836G>A MANE Select | ENSP00000271588.4:p.Gly5279Glu | |
| ENST00000271588.8:c.15836G>A | ENSP00000271588.4:p.Gly5279Glu | |
| ENST00000414277.1:c.212G>A | ENSP00000406205.1:p.Gly71Glu | |
| NM_031935.2:c.15836G>A | NP_114141.2:p.Gly5279Glu | |
| XM_011510037.1:c.15551G>A | XP_011508339.1:p.Gly5184Glu | |
| XM_011510038.1:c.15836G>A | XP_011508340.1:p.Gly5279Glu | |
| XM_011510038.3:c.15836G>A | XP_011508340.1:p.Gly5279Glu | |
| XM_017002437.1:c.13859G>A | XP_016857926.1:p.Gly4620Glu | |
| NM_031935.3:c.15836G>A MANE Select | NP_114141.2:p.Gly5279Glu |