gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.21041574 (AFR)
Genomes Max Group AF
0.21041574 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.134391612A>G , CM000667.2:g.134391612A>G | GRCh38 |
| NC_000005.9:g.133727303A>G , CM000667.1:g.133727303A>G | GRCh37 |
| NC_000005.8:g.133755202A>G | NCBI36 |
| NG_046936.1:g.25437A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265339.7:c.*1259A>G MANE Select | ENSP00000265339.2:n.*1259A>G | |
| ENST00000265339.6:c.*1259A>G | ENSP00000265339.2:n.*1259A>G | |
| NM_003337.3:c.*1259A>G | NP_003328.1:n.*1259A>G | |
| NM_003337.4:c.*1259A>G MANE Select | NP_003328.1:n.*1259A>G |