gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.04165006 (NFE)
Genomes Max Group AF
0.04165006 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10175803G>A , CM000668.2:g.10175803G>A | GRCh38 |
| NC_000006.11:g.10176036G>A , CM000668.1:g.10176036G>A | GRCh37 |
| NC_000006.10:g.10284022G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000462111.1:n.164-16304C>T | ||
| ENST00000481704.1:c.-101-16304C>T | ENSP00000418286.1:n.-101-16304C>T | |
| XM_017011612.1:c.-101-16304C>T | XP_016867101.1:n.-101-16304C>T | |
| NR_170155.1:n.232-16304C>T |