gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.17587955 (AMR)
Genomes Max Group AF
0.17587955 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.145659268T>C , CM000667.2:g.145659268T>C | GRCh38 |
| NC_000005.9:g.145038831T>C , CM000667.1:g.145038831T>C | GRCh37 |
| NC_000005.8:g.145019024T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000510259.5:n.70+105663A>G | ||
| XR_944308.1:n.662+105663A>G | ||
| XM_017009130.1:c.*6088A>G | XP_016864619.1:n.*6088A>G | |
| XM_017009133.1:c.*6120A>G | XP_016864622.1:n.*6120A>G | |
| XR_001742025.1:n.913+44707A>G |