gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02522353 (EAS)
Genomes Max Group AF
0.01397364 (EAS)
Exomes Max Group AF
0.02637134 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186129967C>T , CM000663.2:g.186129967C>T | GRCh38 |
| NC_000001.10:g.186099099C>T , CM000663.1:g.186099099C>T | GRCh37 |
| NC_000001.9:g.184365722C>T | NCBI36 |
| NG_011841.1:g.400417C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.12906C>T MANE Select | ENSP00000271588.4:p.Ala4302= | |
| ENST00000271588.8:c.12906C>T | ENSP00000271588.4:p.Ala4302= | |
| NM_031935.2:c.12906C>T | NP_114141.2:p.Ala4302= | |
| XM_011510037.1:c.12621C>T | XP_011508339.1:p.Ala4207= | |
| XM_011510038.1:c.12906C>T | XP_011508340.1:p.Ala4302= | |
| XM_011510039.1:c.12906C>T | XP_011508341.1:p.Ala4302= | |
| XM_011510038.3:c.12906C>T | XP_011508340.1:p.Ala4302= | |
| XM_017002437.1:c.10929C>T | XP_016857926.1:p.Ala3643= | |
| NM_031935.3:c.12906C>T MANE Select | NP_114141.2:p.Ala4302= |