Canonical Allele Identifier: CA2284239428
Gene:

Linked Data

dbSNP Id: rs1598367341
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.10321427G>A , CM000680.2:g.10321427G>A GRCh38
NC_000018.9:g.10321424G>A , CM000680.1:g.10321424G>A GRCh37
NC_000018.8:g.10311424G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_935138.1:n.665+721C>T
XR_001753344.1:n.650+721C>T
XR_001753345.1:n.694C>T
XR_001753346.1:n.549+721C>T
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