dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.65561128 (AFR)
Genomes Max Group AF
0.65561128 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.130968857G>A , CM000669.2:g.130968857G>A | GRCh38 |
| NC_000007.13:g.130653616G>A , CM000669.1:g.130653616G>A | GRCh37 |
| NC_000007.12:g.130304156G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_015431.2:n.1452+15196C>T | ||
| NR_024153.2:n.418+15196C>T | ||
| NR_109850.1:n.1576+15196C>T | ||
| NR_109851.1:n.1453-1340C>T | ||
| NR_109852.1:n.1453-8887C>T | ||
| NR_109853.1:n.1452+15196C>T | ||
| NR_109854.1:n.1452+15196C>T | ||
| NR_109855.1:n.1321+15196C>T | ||
| NR_170175.1:n.1606+9651C>T | ||
| NR_170176.1:n.1482+9651C>T |