Canonical Allele Identifier: CA2709923618
Gene:

Linked Data

dbSNP Id: rs2112824936
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.129386829T>C , CM000667.2:g.129386829T>C GRCh38
NC_000005.9:g.128722522T>C , CM000667.1:g.128722522T>C GRCh37
NC_000005.8:g.128750421T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_427770.2:n.163-1619T>C
XR_948774.1:n.235-5822T>C
XR_001742463.1:n.4089-1619T>C
XR_001742464.1:n.2019-5822T>C
XR_001742465.1:n.401-1619T>C
XR_427770.3:n.337-1619T>C
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