Canonical Allele Identifier:
CA148327517
Gene:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00016881 (SAS)
Genomes Max Group AF
0.00016881 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131125651C>A , CM000668.2:g.131125651C>A | GRCh38 |
| NC_000006.11:g.131446791C>A , CM000668.1:g.131446791C>A | GRCh37 |
| NC_000006.10:g.131488484C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_428022.2:n.95+4086G>T | ||
| XR_942994.1:n.95+4086G>T | ||
| XR_001744341.1:n.472+4138G>T | ||
| XR_428022.3:n.524+4086G>T | ||
| XR_942994.2:n.524+4086G>T |