Canonical Allele Identifier: CA2221132863
Gene:

Linked Data

dbSNP Id: rs1961469382

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.49108747G>A , CM000678.2:g.49108747G>A GRCh38
NC_000016.9:g.49142658G>A , CM000678.1:g.49142658G>A GRCh37
NC_000016.8:g.47700159G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933517.1:n.810+1197C>T
XR_001752138.2:n.591+5229C>T
XR_933517.2:n.810+1197C>T