gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00065635 (MID)
Genomes Max Group AF
0.00010176 (NFE)
Exomes Max Group AF
0.00068985 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.92005309A>G , CM000676.2:g.92005309A>G | GRCh38 |
| NC_000014.8:g.92471653A>G , CM000676.1:g.92471653A>G | GRCh37 |
| NC_000014.7:g.91541406A>G | NCBI36 |
| NG_016970.1:g.39751T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267622.8:c.2667T>C MANE Select | ENSP00000267622.4:p.Asp889= | |
| ENST00000554357.5:c.1813T>C | ||
| NM_004239.3:c.2667T>C | NP_004230.2:p.Asp889= | |
| XM_005268214.2:c.1341T>C | XP_005268271.1:p.Asp447= | |
| XM_005268215.2:c.1527+2331T>C | XP_005268272.1:n.1527+2331T>C | |
| XM_006720321.2:c.2664T>C | XP_006720384.1:p.Asp888= | |
| XM_011537361.1:c.2667T>C | XP_011535663.1:p.Asp889= | |
| XR_943560.1:n.3122T>C | ||
| NM_001321851.1:c.2664T>C | NP_001308780.1:p.Asp888= | |
| NM_004239.4:c.2667T>C MANE Select | NP_004230.2:p.Asp889= | |
| XM_017021787.2:c.1962T>C | XP_016877276.1:p.Asp654= | |
| XM_017021788.2:c.1341T>C | XP_016877277.1:p.Asp447= | |
| XR_001750598.2:n.3116T>C | ||
| XR_943560.2:n.3116T>C |