gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.72013666 (EAS)
Genomes Max Group AF
0.70764992 (EAS)
Exomes Max Group AF
0.72002371 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.53091569T>C , CM000665.2:g.53091569T>C | GRCh38 |
| NC_000003.11:g.53125585T>C , CM000665.1:g.53125585T>C | GRCh37 |
| NC_000003.10:g.53100625T>C | NCBI36 |
| NG_009203.1:g.43886A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296292.8:c.*334A>G MANE Select | ENSP00000296292.3:n.*334A>G | |
| ENST00000296292.7:c.*334A>G | ENSP00000296292.3:n.*334A>G | |
| ENST00000607203.1:c.74-5717A>G | ||
| ENST00000607283.5:c.323+800A>G | ||
| ENST00000607495.5:c.73+7812A>G | ||
| NM_052859.3:c.*334A>G | NP_443091.1:n.*334A>G | |
| XM_006713384.2:c.1209-5717A>G | XP_006713447.1:n.1209-5717A>G | |
| XM_011534214.1:c.1208+7812A>G | XP_011532516.1:n.1208+7812A>G | |
| XM_011534215.1:c.1208+7812A>G | XP_011532517.1:n.1208+7812A>G | |
| XM_011534216.1:c.*334A>G | XP_011532518.1:n.*334A>G | |
| XR_940507.1:n.1268-5717A>G | ||
| XM_006713384.3:c.1209-5717A>G | XP_006713447.1:n.1209-5717A>G | |
| XM_011534214.2:c.1208+7812A>G | XP_011532516.1:n.1208+7812A>G | |
| XM_011534215.3:c.1208+7812A>G | XP_011532517.1:n.1208+7812A>G | |
| XM_011534216.3:c.*334A>G | XP_011532518.1:n.*334A>G | |
| XM_017007460.1:c.1458+800A>G | XP_016862949.1:n.1458+800A>G | |
| XM_017007461.2:c.*334A>G | XP_016862950.1:n.*334A>G | |
| XR_001740360.2:n.1920A>G | ||
| NM_052859.4:c.*334A>G MANE Select | NP_443091.1:n.*334A>G |