Canonical Allele Identifier:
CA809521162
Gene:
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.28747216G>A , CM000667.2:g.28747216G>A | GRCh38 |
| NC_000005.9:g.28747323G>A , CM000667.1:g.28747323G>A | GRCh37 |
| NC_000005.8:g.28783080G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_925882.1:n.75-37242C>T | ||
| XR_925883.1:n.75-37242C>T | ||
| XR_925884.1:n.75-37242C>T | ||
| XR_001742621.1:n.182+3047G>A |