gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.38934004 (MID)
Genomes Max Group AF
0.37808232 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.83549261A>G , CM000671.2:g.83549261A>G | GRCh38 |
| NC_000009.11:g.86164176A>G , CM000671.1:g.86164176A>G | GRCh37 |
| NC_000009.10:g.85353996A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_017014588.1:c.24+10909T>C | XP_016870077.1:n.24+10909T>C | |
| XM_024447487.1:c.-142+25649T>C | XP_024303255.1:n.-142+25649T>C | |
| XM_024447489.1:c.-142+25649T>C | XP_024303257.1:n.-142+25649T>C |