gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003941 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00004009 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41755789G>A , CM000679.2:g.41755789G>A | GRCh38 |
| NC_000017.10:g.39912041G>A , CM000679.1:g.39912041G>A | GRCh37 |
| NC_000017.9:g.37165567G>A | NCBI36 |
| NG_009090.2:g.35924C>T , LRG_401:g.35924C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393931.8:c.2193C>T MANE Select | ENSP00000377508.3:p.Asp731= | |
| ENST00000310706.9:c.2193C>T | ENSP00000311113.5:p.Asp731= | |
| ENST00000393930.5:c.2193C>T | ENSP00000377507.1:p.Asp731= | |
| ENST00000393931.7:c.2193C>T | ENSP00000377508.3:p.Asp731= | |
| NM_002230.2:c.2193C>T , LRG_401t2:c.2193C>T | NP_002221.1:p.Asp731= | |
| NM_021991.2:c.2193C>T , LRG_401t1:c.2193C>T | NP_068831.1:p.Asp731= | |
| XM_006721873.1:c.2193C>T | XP_006721936.1:p.Asp731= | |
| XM_006721874.1:c.2193C>T | XP_006721937.1:p.Asp731= | |
| XM_006721875.1:c.2193C>T | XP_006721938.1:p.Asp731= | |
| XM_006721878.1:c.2193C>T | XP_006721941.1:p.Asp731= | |
| XM_011524753.1:c.2193C>T | XP_011523055.1:p.Asp731= | |
| XM_011524754.1:c.2193C>T | XP_011523056.1:p.Asp731= | |
| XM_011524755.1:c.2193C>T | XP_011523057.1:p.Asp731= | |
| XM_011524756.1:c.2193C>T | XP_011523058.1:p.Asp731= | |
| XM_011524757.1:c.2193C>T | XP_011523059.1:p.Asp731= | |
| XM_011524758.1:c.2193C>T | XP_011523060.1:p.Asp731= | |
| NM_001352773.1:c.2193C>T | NP_001339702.1:p.Asp731= | |
| NM_001352774.1:c.2193C>T | NP_001339703.1:p.Asp731= | |
| NM_001352775.1:c.2193C>T | NP_001339704.1:p.Asp731= | |
| NM_001352776.1:c.2193C>T | NP_001339705.1:p.Asp731= | |
| NM_001352777.1:c.2193C>T | NP_001339706.1:p.Asp731= | |
| NM_002230.3:c.2193C>T | NP_002221.1:p.Asp731= | |
| NM_021991.3:c.2193C>T | NP_068831.1:p.Asp731= | |
| XM_006721874.3:c.2193C>T | XP_006721937.1:p.Asp731= | |
| XM_011524753.2:c.2193C>T | XP_011523055.1:p.Asp731= | |
| XM_017024588.2:c.2244C>T | XP_016880077.1:p.Asp748= | |
| XM_017024590.1:c.2193C>T | XP_016880079.1:p.Asp731= | |
| NM_002230.4:c.2193C>T MANE Select | NP_002221.1:p.Asp731= | |
| NM_001352773.2:c.2193C>T | NP_001339702.1:p.Asp731= | |
| NM_001352774.2:c.2193C>T | NP_001339703.1:p.Asp731= | |
| NM_001352775.2:c.2193C>T | NP_001339704.1:p.Asp731= | |
| NM_001352776.2:c.2193C>T | NP_001339705.1:p.Asp731= | |
| NM_001352777.2:c.2193C>T | NP_001339706.1:p.Asp731= | |
| NM_021991.4:c.2193C>T | NP_068831.1:p.Asp731= |