Canonical Allele Identifier:
CA104325124
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.20482789 (NFE)
Genomes Max Group AF
0.20482789 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.116928293G>T , CM000666.2:g.116928293G>T | GRCh38 |
| NC_000004.11:g.117849449G>T , CM000666.1:g.117849449G>T | GRCh37 |
| NC_000004.10:g.118068897G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001741796.1:n.668+28C>A | ||
| XR_001741797.1:n.619+28C>A | ||
| XR_001741798.1:n.671+28C>A | ||
| XR_001741800.1:n.671+28C>A |