Canonical Allele Identifier:
CA2607136821
Gene:
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.195007095C>A , CM000664.2:g.195007095C>A | GRCh38 |
| NC_000002.11:g.195871819C>A , CM000664.1:g.195871819C>A | GRCh37 |
| NC_000002.10:g.195580064C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001739836.1:n.553+52340G>T |