gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000462 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00004615 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.231266039A>G , CM000663.2:g.231266039A>G | GRCh38 |
| NC_000001.10:g.231401785A>G , CM000663.1:g.231401785A>G | GRCh37 |
| NC_000001.9:g.229468408A>G | NCBI36 |
| NG_008240.1:g.29867A>G | |
| NG_008240.2:g.29867A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366647.9:c.798A>G MANE Select | ENSP00000355607.4:p.Pro266= | |
| ENST00000644483.1:c.*484A>G | ENSP00000496537.1:n.*484A>G | |
| ENST00000366647.8:c.798A>G | ENSP00000355607.4:p.Pro266= | |
| ENST00000416000.1:c.768A>G | ENSP00000411640.1:p.Pro256= | |
| ENST00000436239.5:c.615A>G | ENSP00000402811.1:p.Pro205= | |
| NM_001316350.1:c.615A>G | NP_001303279.1:p.Pro205= | |
| NM_014236.3:c.798A>G | NP_055051.1:p.Pro266= | |
| XM_005273313.3:c.795A>G | XP_005273370.1:p.Pro265= | |
| XM_011544303.1:c.471A>G | XP_011542605.1:p.Pro157= | |
| XM_011544304.1:c.471A>G | XP_011542606.1:p.Pro157= | |
| XM_005273313.4:c.795A>G | XP_005273370.1:p.Pro265= | |
| XM_011544303.3:c.471A>G | XP_011542605.1:p.Pro157= | |
| XM_011544304.2:c.471A>G | XP_011542606.1:p.Pro157= | |
| NM_014236.4:c.798A>G MANE Select | NP_055051.1:p.Pro266= | |
| NM_001316350.2:c.615A>G | NP_001303279.1:p.Pro205= |