gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.73231971 (NFE)
Genomes Max Group AF
0.73231971 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78667891C>T , CM000666.2:g.78667891C>T | GRCh38 |
| NC_000004.11:g.79589045C>T , CM000666.1:g.79589045C>T | GRCh37 |
| NC_000004.10:g.79808069C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_038303.1:n.473+4880C>T | ||
| NR_038304.1:n.473+4880C>T | ||
| NR_038305.1:n.380-5452C>T | ||
| NR_038306.1:n.380-12870C>T | ||
| NR_038307.1:n.364+4880C>T | ||
| NR_038308.1:n.325+4919C>T |