gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.35643961 (SAS)
Genomes Max Group AF
0.35643961 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.130982362C>T , CM000669.2:g.130982362C>T | GRCh38 |
| NC_000007.13:g.130667121C>T , CM000669.1:g.130667121C>T | GRCh37 |
| NC_000007.12:g.130317661C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_015431.2:n.1452+1691G>A | ||
| NR_024153.2:n.418+1691G>A | ||
| NR_109850.1:n.1576+1691G>A | ||
| NR_109851.1:n.1452+1691G>A | ||
| NR_109852.1:n.1452+1691G>A | ||
| NR_109853.1:n.1452+1691G>A | ||
| NR_109854.1:n.1452+1691G>A | ||
| NR_109855.1:n.1321+1691G>A | ||
| NR_170175.1:n.1585+1691G>A | ||
| NR_170176.1:n.1461+1691G>A |