gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.21373386 (AFR)
Genomes Max Group AF
0.21373386 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.30761908A>G , CM000675.2:g.30761908A>G | GRCh38 |
| NC_000013.10:g.31336045A>G , CM000675.1:g.31336045A>G | GRCh37 |
| NC_000013.9:g.30234045A>G | NCBI36 |
| NG_011963.2:g.53431A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380490.5:c.324-2036A>G MANE Select | ENSP00000369858.3:n.324-2036A>G | |
| ENST00000380490.4:c.324-2036A>G | ENSP00000369858.3:n.324-2036A>G | |
| ENST00000617770.4:c.495-2036A>G | ENSP00000479870.1:n.495-2036A>G | |
| NM_001204406.1:c.495-2036A>G | NP_001191335.1:n.495-2036A>G | |
| NM_001629.3:c.324-2036A>G | NP_001620.2:n.324-2036A>G | |
| XM_011535025.1:c.204-2036A>G | XP_011533327.1:n.204-2036A>G | |
| XM_017020522.2:c.204-2036A>G | XP_016876011.1:n.204-2036A>G | |
| NM_001204406.2:c.495-2036A>G | NP_001191335.1:n.495-2036A>G | |
| NM_001629.4:c.324-2036A>G MANE Select | NP_001620.2:n.324-2036A>G |