Canonical Allele Identifier:
CA683982759
Gene:
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.115453598C>A , CM000674.2:g.115453598C>A | GRCh38 |
| NC_000012.11:g.115891403C>A , CM000674.1:g.115891403C>A | GRCh37 |
| NC_000012.10:g.114375786C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_945388.1:n.461-46267G>T | ||
| XR_945389.1:n.461-46267G>T | ||
| XR_945388.2:n.465-46267G>T | ||
| XR_945389.2:n.465-46267G>T |