Canonical Allele Identifier: CA2716081304
Gene:

Linked Data

dbSNP Id: rs1795950007

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148560857G>A , CM000669.2:g.148560857G>A GRCh38
NC_000007.13:g.148257949G>A , CM000669.1:g.148257949G>A GRCh37
NC_000007.12:g.147888882G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_928099.1:n.300+7243C>T
XR_928100.1:n.433+7243C>T