Canonical Allele Identifier:
CA189390712
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.08427226 (NFE)
Genomes Max Group AF
0.08427226 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.15157979T>C , CM000671.2:g.15157979T>C | GRCh38 |
| NC_000009.11:g.15157977T>C , CM000671.1:g.15157977T>C | GRCh37 |
| NC_000009.10:g.15147977T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_929492.1:n.250-4928T>C | ||
| XR_929493.1:n.194-4928T>C | ||
| XR_001746624.2:n.879-4928T>C | ||
| XR_929492.3:n.279-4928T>C | ||
| XR_929493.3:n.194-4928T>C |