gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003762 (NFE)
Genomes Max Group AF
0.00003762 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43131922C>T , CM000664.2:g.43131922C>T | GRCh38 |
| NC_000002.11:g.43359061C>T , CM000664.1:g.43359061C>T | GRCh37 |
| NC_000002.10:g.43212565C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_940018.1:n.2122C>T | ||
| XR_940019.1:n.1267C>T | ||
| XR_940020.1:n.2035C>T | ||
| XR_940021.1:n.361+448G>A | ||
| XR_940022.1:n.197+448G>A | ||
| XR_940023.1:n.592+448G>A | ||
| XR_940024.1:n.859+448G>A | ||
| XR_940025.1:n.195+448G>A | ||
| XR_940026.1:n.361+448G>A | ||
| XR_001739443.1:n.1514C>T | ||
| XR_940018.2:n.7702C>T | ||
| XR_940019.2:n.1397C>T |