Canonical Allele Identifier: CA1751305296
Gene:

Linked Data

dbSNP Id: rs1288168373

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148560924A>G , CM000669.2:g.148560924A>G GRCh38
NC_000007.13:g.148258016A>G , CM000669.1:g.148258016A>G GRCh37
NC_000007.12:g.147888949A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928099.1:n.300+7176T>C
XR_928100.1:n.433+7176T>C