Canonical Allele Identifier:
CA12055112
Gene:
gnomAD v2:
gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.75719417T>G , CM000667.2:g.75719417T>G | GRCh38 |
| NC_000005.9:g.75015242T>G , CM000667.1:g.75015242T>G | GRCh37 |
| NC_000005.8:g.75050998T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948486.1:n.152-518T>G | ||
| XR_948487.1:n.80-518T>G | ||
| XR_948489.1:n.151+1649T>G | ||
| NR_149046.1:n.154-518T>G |