gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00010218 (AMR)
Genomes Max Group AF
0.00002267 (AMR)
Exomes Max Group AF
0.00010441 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186129967C>G , CM000663.2:g.186129967C>G | GRCh38 |
| NC_000001.10:g.186099099C>G , CM000663.1:g.186099099C>G | GRCh37 |
| NC_000001.9:g.184365722C>G | NCBI36 |
| NG_011841.1:g.400417C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.12906C>G MANE Select | ENSP00000271588.4:p.Ala4302= | |
| ENST00000271588.8:c.12906C>G | ENSP00000271588.4:p.Ala4302= | |
| NM_031935.2:c.12906C>G | NP_114141.2:p.Ala4302= | |
| XM_011510037.1:c.12621C>G | XP_011508339.1:p.Ala4207= | |
| XM_011510038.1:c.12906C>G | XP_011508340.1:p.Ala4302= | |
| XM_011510039.1:c.12906C>G | XP_011508341.1:p.Ala4302= | |
| XM_011510038.3:c.12906C>G | XP_011508340.1:p.Ala4302= | |
| XM_017002437.1:c.10929C>G | XP_016857926.1:p.Ala3643= | |
| NM_031935.3:c.12906C>G MANE Select | NP_114141.2:p.Ala4302= |