gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.17819782 (SAS)
Genomes Max Group AF
0.17819782 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.130995762T>C , CM000669.2:g.130995762T>C | GRCh38 |
| NC_000007.13:g.130680521T>C , CM000669.1:g.130680521T>C | GRCh37 |
| NC_000007.12:g.130331061T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_015431.2:n.1396-11653A>G | ||
| NR_024153.2:n.362-11653A>G | ||
| NR_109850.1:n.1519+6435A>G | ||
| NR_109851.1:n.1396-11653A>G | ||
| NR_109852.1:n.1396-11653A>G | ||
| NR_109853.1:n.1396-11653A>G | ||
| NR_109854.1:n.1396-11653A>G | ||
| NR_109855.1:n.1265-11653A>G | ||
| NR_170175.1:n.1528+6435A>G | ||
| NR_170176.1:n.1405-11653A>G |