gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.19764804 (SAS)
Genomes Max Group AF
0.19124027 (EAS)
Exomes Max Group AF
0.19787163 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.160422579A>G , CM000667.2:g.160422579A>G | GRCh38 |
| NC_000005.9:g.159849586A>G , CM000667.1:g.159849586A>G | GRCh37 |
| NC_000005.8:g.159782164A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352433.10:c.92-130A>G MANE Select | ENSP00000344936.5:n.92-130A>G | |
| ENST00000352433.9:c.92-130A>G | ENSP00000344936.5:n.92-130A>G | |
| ENST00000393964.1:c.92-130A>G | ENSP00000377536.1:n.92-130A>G | |
| ENST00000517480.1:c.-9A>G | ENSP00000431068.1:n.-9A>G | |
| ENST00000519287.1:n.95-130A>G | ||
| ENST00000520452.5:c.92-130A>G | ENSP00000430642.1:n.92-130A>G | |
| ENST00000523659.5:n.126-130A>G | ||
| ENST00000524244.5:n.140-130A>G | ||
| NM_001282382.1:c.92-130A>G | NP_001269311.1:n.92-130A>G | |
| NM_001282383.1:c.92-130A>G | NP_001269312.1:n.92-130A>G | |
| NM_004219.3:c.92-130A>G | NP_004210.1:n.92-130A>G | |
| XM_024446260.1:c.-9A>G | XP_024302028.1:n.-9A>G | |
| NM_004219.4:c.92-130A>G MANE Select | NP_004210.1:n.92-130A>G |