gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00102151 (MID)
Genomes Max Group AF
0.00068187 (SAS)
Exomes Max Group AF
0.00107348 (MID)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.64963701C>T , CM000677.2:g.64963701C>T | GRCh38 |
| NC_000015.9:g.65256042C>T , CM000677.1:g.65256042C>T | GRCh37 |
| NC_000015.8:g.63043095C>T | NCBI36 |
| NG_008992.2:g.31213G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000204566.7:c.846G>A MANE Select | ENSP00000204566.2:p.Ala282= | |
| ENST00000204566.6:c.846G>A | ENSP00000204566.2:p.Ala282= | |
| ENST00000416889.6:c.765G>A | ENSP00000394846.2:p.Ala255= | |
| ENST00000433215.6:c.846G>A | ENSP00000404111.2:p.Ala282= | |
| ENST00000559199.5:c.384G>A | ENSP00000456365.1:p.Ala128= | |
| ENST00000561078.5:c.*310G>A | ENSP00000452865.1:n.*310G>A | |
| NM_001127889.4:c.846G>A | NP_001121361.1:p.Ala282= | |
| NM_001127890.4:c.765G>A | NP_001121362.1:p.Ala255= | |
| NM_016630.6:c.846G>A | NP_057714.1:p.Ala282= | |
| XM_005254436.3:c.846G>A | XP_005254493.1:p.Ala282= | |
| XM_005254437.3:c.846G>A | XP_005254494.1:p.Ala282= | |
| XM_006720564.2:c.846G>A | XP_006720627.1:p.Ala282= | |
| XM_011521662.1:c.846G>A | XP_011519964.1:p.Ala282= | |
| XM_005254437.4:c.846G>A | XP_005254494.1:p.Ala282= | |
| XM_017022297.1:c.846G>A | XP_016877786.1:p.Ala282= | |
| XM_017022298.1:c.846G>A | XP_016877787.1:p.Ala282= | |
| NM_016630.7:c.846G>A MANE Select | NP_057714.1:p.Ala282= | |
| NM_001127889.5:c.846G>A | NP_001121361.1:p.Ala282= | |
| NM_001127890.5:c.765G>A | NP_001121362.1:p.Ala255= |