gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01029895 (AFR)
Genomes Max Group AF
0.00867289 (AFR)
Exomes Max Group AF
0.01097748 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19706182C>T , CM000686.2:g.19706182C>T | GRCh38 |
| NC_000024.9:g.21868068C>T , CM000686.1:g.21868068C>T | GRCh37 |
| NC_000024.8:g.20327456C>T | NCBI36 |
| NG_032920.1:g.43758G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317961.9:c.4433G>A MANE Select | ENSP00000322408.4:p.Arg1478Gln | |
| ENST00000317961.8:c.4433G>A | ENSP00000322408.4:p.Arg1478Gln | |
| ENST00000382806.6:c.4262G>A | ENSP00000372256.2:p.Arg1421Gln | |
| ENST00000440077.5:c.4310G>A | ENSP00000398543.1:p.Arg1437Gln | |
| ENST00000469599.6:n.3184G>A | ||
| ENST00000492117.1:n.4478G>A | ||
| ENST00000541639.5:c.4526G>A | ENSP00000444293.1:p.Arg1509Gln | |
| NM_001146705.1:c.4526G>A | NP_001140177.1:p.Arg1509Gln | |
| NM_001146706.1:c.4262G>A | NP_001140178.1:p.Arg1421Gln | |
| NM_004653.4:c.4433G>A | NP_004644.2:p.Arg1478Gln | |
| XM_005262560.1:c.4298G>A | XP_005262617.1:p.Arg1433Gln | |
| XM_005262561.1:c.4202G>A | XP_005262618.1:p.Arg1401Gln | |
| XM_011531468.1:c.4355G>A | XP_011529770.1:p.Arg1452Gln | |
| XR_430568.2:n.5208G>A | ||
| XM_005262560.3:c.4298G>A | XP_005262617.1:p.Arg1433Gln | |
| XM_005262561.3:c.4202G>A | XP_005262618.1:p.Arg1401Gln | |
| XM_011531468.3:c.4355G>A | XP_011529770.1:p.Arg1452Gln | |
| XM_024452495.1:c.2423G>A | XP_024308263.1:p.Arg808Gln | |
| XM_024452496.1:c.2189G>A | XP_024308264.1:p.Arg730Gln | |
| XR_001756009.2:n.5171G>A | ||
| XR_001756010.2:n.5139G>A | ||
| XR_001756011.2:n.5036G>A | ||
| XR_001756012.2:n.5184G>A | ||
| XR_001756013.2:n.4502G>A | ||
| XR_002958832.1:n.4756G>A | ||
| XR_002958834.1:n.4827G>A | ||
| XR_002958835.1:n.4710G>A | ||
| XR_002958836.1:n.5361G>A | ||
| XR_002958837.1:n.5168G>A | ||
| XR_244571.4:n.4688G>A | ||
| XR_430568.4:n.5207G>A | ||
| NM_001146706.2:c.4262G>A | NP_001140178.1:p.Arg1421Gln | |
| NM_004653.5:c.4433G>A MANE Select | NP_004644.2:p.Arg1478Gln | |
| NM_001146705.2:c.4526G>A | NP_001140177.1:p.Arg1509Gln |