gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00623593 (SAS)
Genomes Max Group AF
0.00679857 (SAS)
Exomes Max Group AF
0.00610278 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64757779C>T , CM000673.2:g.64757779C>T | GRCh38 |
| NC_000011.9:g.64525251C>T , CM000673.1:g.64525251C>T | GRCh37 |
| NC_000011.8:g.64281827C>T | NCBI36 |
| NG_013018.1:g.7937G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.660G>A MANE Select | ENSP00000164139.3:p.Gln220= | |
| ENST00000164139.3:c.660G>A | ENSP00000164139.3:p.Gln220= | |
| ENST00000377432.7:c.396G>A | ENSP00000366650.3:p.Gln132= | |
| NM_001164716.1:c.396G>A | NP_001158188.1:p.Gln132= | |
| NM_005609.2:c.660G>A | NP_005600.1:p.Gln220= | |
| NM_005609.3:c.660G>A | NP_005600.1:p.Gln220= | |
| NM_005609.4:c.660G>A MANE Select | NP_005600.1:p.Gln220= |