Canonical Allele Identifier: CA936775831

Gene:

Linked Data

• dbSNP Id: rs1851774982
• gnomAD v3: 11-34812500-T-C
• gnomAD v4: 11-34812500-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34812500T>C , CM000673.2:g.34812500T>C	GRCh38
NC_000011.9:g.34834047T>C , CM000673.1:g.34834047T>C	GRCh37
NC_000011.8:g.34790623T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_428897.2:n.579+57893T>C
XR_931188.1:n.693+57893T>C
XR_931189.1:n.854+57893T>C
XR_931190.1:n.639+57893T>C
XR_931191.1:n.689+57893T>C
XR_001748174.1:n.855+57893T>C
XR_001748176.1:n.1016+57893T>C
XR_002957246.1:n.639+57893T>C