Canonical Allele Identifier: CA2193611477
Gene:

Linked Data

dbSNP Id: rs2082316771

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.87166869T>C , CM000677.2:g.87166869T>C GRCh38
NC_000015.9:g.87710100T>C , CM000677.1:g.87710100T>C GRCh37
NC_000015.8:g.85511104T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_932582.1:n.167-11358T>C
XR_932582.2:n.167-11358T>C