Canonical Allele Identifier: CA220638145
Gene:

Linked Data

dbSNP Id: rs1022170426

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.34759280T>C , CM000673.2:g.34759280T>C GRCh38
NC_000011.9:g.34780827T>C , CM000673.1:g.34780827T>C GRCh37
NC_000011.8:g.34737403T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_428897.2:n.579+4673T>C
XR_931188.1:n.693+4673T>C
XR_931189.1:n.854+4673T>C
XR_931190.1:n.639+4673T>C
XR_931191.1:n.689+4673T>C
XR_001748174.1:n.855+4673T>C
XR_001748176.1:n.1016+4673T>C
XR_002957246.1:n.639+4673T>C