Canonical Allele Identifier: CA2246165789
Gene:

Linked Data

dbSNP Id: rs1981890916

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8137423T>C , CM000679.2:g.8137423T>C GRCh38
NC_000017.10:g.8040741T>C , CM000679.1:g.8040741T>C GRCh37
NC_000017.9:g.7981466T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_934202.1:n.183-1426T>C
XR_934203.1:n.70-2054T>C
XR_934202.2:n.414-1426T>C