gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.15278573 (AMR)
Genomes Max Group AF
0.15278573 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.37474336A>G , CM000665.2:g.37474336A>G | GRCh38 |
| NC_000003.11:g.37515827A>G , CM000665.1:g.37515827A>G | GRCh37 |
| NC_000003.10:g.37490831A>G | NCBI36 |
| NG_016166.1:g.27015A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264741.10:c.420+876A>G MANE Select | ENSP00000264741.5:n.420+876A>G | |
| ENST00000264741.9:c.420+876A>G | ENSP00000264741.5:n.420+876A>G | |
| ENST00000422441.5:c.420+876A>G | ENSP00000397258.1:n.420+876A>G | |
| NM_002207.2:c.420+876A>G | NP_002198.2:n.420+876A>G | |
| NM_002207.3:c.420+876A>G MANE Select | NP_002198.2:n.420+876A>G |