Canonical Allele Identifier: CA1689218196
Gene:

Linked Data

dbSNP Id: rs1783119063
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.13400636C>G , CM000669.2:g.13400636C>G GRCh38
NC_000007.13:g.13440261C>G , CM000669.1:g.13440261C>G GRCh37
NC_000007.12:g.13406786C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745097.1:n.147+90313C>G
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