gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00130981 (NFE)
Genomes Max Group AF
0.00134476 (NFE)
Exomes Max Group AF
0.00129466 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40613408G>A , CM000681.2:g.40613408G>A | GRCh38 |
| NC_000019.9:g.41119314G>A , CM000681.1:g.41119314G>A | GRCh37 |
| NC_000019.8:g.45811154G>A | NCBI36 |
| NG_021201.1:g.25243G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396819.8:c.2436G>A MANE Select | ENSP00000380031.5:p.Val812= | |
| ENST00000204005.13:c.2526G>A | ENSP00000204005.10:p.Val842= | |
| ENST00000243562.13:c.635G>A | ||
| ENST00000308370.11:c.2637G>A | ENSP00000311905.8:p.Val879= | |
| ENST00000396819.7:c.2436G>A | ENSP00000380031.4:p.Val812= | |
| ENST00000546155.5:n.865G>A | ||
| ENST00000598055.1:n.530G>A | ||
| ENST00000600499.5:n.36G>A | ||
| ENST00000601032.5:c.331G>A | ||
| ENST00000610893.4:n.34G>A | ||
| ENST00000612121.4:c.67G>A | ||
| NM_001042544.1:c.2637G>A | NP_001036009.1:p.Val879= | |
| NM_001042545.1:c.2436G>A | NP_001036010.1:p.Val812= | |
| NM_003573.2:c.2526G>A | NP_003564.2:p.Val842= | |
| XM_011527376.1:c.2751G>A | XP_011525678.1:p.Val917= | |
| XM_011527377.1:c.2670G>A | XP_011525679.1:p.Val890= | |
| XM_011527378.1:c.2670G>A | XP_011525680.1:p.Val890= | |
| XM_011527379.1:c.2550G>A | XP_011525681.1:p.Val850= | |
| XM_011527380.1:c.2544G>A | XP_011525682.1:p.Val848= | |
| XM_011527381.1:c.2670G>A | XP_011525683.1:p.Val890= | |
| XM_011527382.1:c.2427G>A | XP_011525684.1:p.Val809= | |
| XM_011527383.1:c.2670G>A | XP_011525685.1:p.Val890= | |
| XM_011527384.1:c.2670G>A | XP_011525686.1:p.Val890= | |
| XM_011527385.1:c.2670G>A | XP_011525687.1:p.Val890= | |
| XM_011527386.1:c.2670G>A | XP_011525688.1:p.Val890= | |
| XM_011527387.1:c.2028G>A | XP_011525689.1:p.Val676= | |
| XM_011527376.2:c.2751G>A | XP_011525678.1:p.Val917= | |
| XM_011527377.2:c.2670G>A | XP_011525679.1:p.Val890= | |
| XM_011527378.2:c.2670G>A | XP_011525680.1:p.Val890= | |
| XM_011527380.2:c.2544G>A | XP_011525682.1:p.Val848= | |
| XM_011527381.2:c.2670G>A | XP_011525683.1:p.Val890= | |
| XM_011527382.2:c.2427G>A | XP_011525684.1:p.Val809= | |
| XM_011527383.2:c.2670G>A | XP_011525685.1:p.Val890= | |
| XM_011527384.2:c.2670G>A | XP_011525686.1:p.Val890= | |
| XM_011527385.2:c.2670G>A | XP_011525687.1:p.Val890= | |
| XM_011527386.2:c.2670G>A | XP_011525688.1:p.Val890= | |
| XM_017027352.1:c.2670G>A | XP_016882841.1:p.Val890= | |
| XM_017027353.1:c.2670G>A | XP_016882842.1:p.Val890= | |
| XM_017027354.1:c.2544G>A | XP_016882843.1:p.Val848= | |
| NM_001042545.2:c.2436G>A MANE Select | NP_001036010.1:p.Val812= |