Canonical Allele Identifier:
CA14112022
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.29664043 (NFE)
Genomes Max Group AF
0.29664043 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.95782414T>C , CM000677.2:g.95782414T>C | GRCh38 |
| NC_000015.9:g.96325643T>C , CM000677.1:g.96325643T>C | GRCh37 |
| NC_000015.8:g.94126647T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_932654.1:n.148-42775T>C |