Canonical Allele Identifier: CA1751305249
Gene:

Linked Data

dbSNP Id: rs1795950007

Genomic Alleles

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

Transcript Alleles

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