gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.72340662 (AMR)
Genomes Max Group AF
0.72340662 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91166134C>T , CM000671.2:g.91166134C>T | GRCh38 |
| NC_000009.11:g.93928416C>T , CM000671.1:g.93928416C>T | GRCh37 |
| NC_000009.10:g.92968237C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_930113.1:n.264-4539C>T | ||
| XR_930114.1:n.268-4539C>T | ||
| XR_930115.1:n.259-4539C>T | ||
| XR_930116.1:n.618-4539C>T | ||
| XR_930117.1:n.597-4539C>T | ||
| NR_135306.1:n.161-16335C>T |