gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.27535223 (AFR)
Genomes Max Group AF
0.27442994 (AFR)
Exomes Max Group AF
0.27292381 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.158121282A>G , CM000664.2:g.158121282A>G | GRCh38 |
| NC_000002.11:g.158977794A>G , CM000664.1:g.158977794A>G | GRCh37 |
| NC_000002.10:g.158686040A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000005756.5:c.455-127A>G MANE Select | ENSP00000005756.5:n.455-127A>G | |
| ENST00000005756.4:c.455-127A>G | ENSP00000005756.4:n.455-127A>G | |
| ENST00000460456.1:n.377-2467A>G | ||
| ENST00000605860.5:c.626-127A>G | ENSP00000474090.1:n.626-127A>G | |
| NM_001135098.1:c.626-127A>G | NP_001128570.1:n.626-127A>G | |
| NM_173355.3:c.455-127A>G | NP_775491.1:n.455-127A>G | |
| XM_005246359.2:c.455-127A>G | XP_005246416.1:n.455-127A>G | |
| XR_922880.1:n.649-127A>G | ||
| XR_922881.1:n.649-127A>G | ||
| XM_005246359.3:c.455-127A>G | XP_005246416.1:n.455-127A>G | |
| XM_017003484.1:c.455-127A>G | XP_016858973.1:n.455-127A>G | |
| XR_001738652.1:n.649-127A>G | ||
| XR_922880.2:n.649-127A>G | ||
| XR_922881.2:n.649-127A>G | ||
| NM_173355.4:c.455-127A>G MANE Select | NP_775491.1:n.455-127A>G | |
| NM_001135098.2:c.626-127A>G | NP_001128570.1:n.626-127A>G |