Canonical Allele Identifier: CA1591798673
Gene:

Linked Data

dbSNP Id: rs1760950428

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.152354433C>T , CM000667.2:g.152354433C>T GRCh38
NC_000005.9:g.151733994C>T , CM000667.1:g.151733994C>T GRCh37
NC_000005.8:g.151714187C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_944433.1:n.196+16570C>T
XR_944433.2:n.197+16570C>T