Canonical Allele Identifier: CA936776409
Gene:

Linked Data

dbSNP Id: rs1851019405
gnomAD v3: 11-34759490-G-C
gnomAD v4: 11-34759490-G-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.34759490G>C , CM000673.2:g.34759490G>C GRCh38
NC_000011.9:g.34781037G>C , CM000673.1:g.34781037G>C GRCh37
NC_000011.8:g.34737613G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_428897.2:n.579+4883G>C
XR_931188.1:n.693+4883G>C
XR_931189.1:n.854+4883G>C
XR_931190.1:n.639+4883G>C
XR_931191.1:n.689+4883G>C
XR_001748174.1:n.855+4883G>C
XR_001748176.1:n.1016+4883G>C
XR_002957246.1:n.639+4883G>C
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