gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.28187126 (NFE)
Genomes Max Group AF
0.28187126 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.121625293A>G , CM000665.2:g.121625293A>G | GRCh38 |
| NC_000003.11:g.121344140A>G , CM000665.1:g.121344140A>G | GRCh37 |
| NC_000003.10:g.122826830A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338040.6:c.1915-1402A>G MANE Select | ENSP00000337510.4:n.1915-1402A>G | |
| ENST00000338040.5:c.1915-1402A>G | ENSP00000337510.4:n.1915-1402A>G | |
| NM_016298.3:c.1915-1402A>G | NP_057382.2:n.1915-1402A>G | |
| NM_016298.4:c.1915-1402A>G MANE Select | NP_057382.2:n.1915-1402A>G |