gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002263 (AMR)
Genomes Max Group AF
0.00002263 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.9040612T>G , CM000679.2:g.9040612T>G | GRCh38 |
| NC_000017.10:g.8943929T>G , CM000679.1:g.8943929T>G | GRCh37 |
| NC_000017.9:g.8884654T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000173229.7:c.1018+17221T>G MANE Select | ENSP00000173229.2:n.1018+17221T>G | |
| ENST00000173229.6:c.1018+17221T>G | ENSP00000173229.2:n.1018+17221T>G | |
| NM_004822.2:c.1018+17221T>G | NP_004813.2:n.1018+17221T>G | |
| XM_006721595.2:c.1018+17221T>G | XP_006721658.1:n.1018+17221T>G | |
| XM_006721595.3:c.1018+17221T>G | XP_006721658.1:n.1018+17221T>G | |
| NM_004822.3:c.1018+17221T>G MANE Select | NP_004813.2:n.1018+17221T>G |