Canonical Allele Identifier: CA931367394
Gene:

Linked Data

dbSNP Id: rs1848183525
gnomAD v3: 10-94762575-G-C
gnomAD v4: 10-94762575-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94762575G>C , CM000672.2:g.94762575G>C GRCh38
NC_000010.10:g.96522332G>C , CM000672.1:g.96522332G>C GRCh37
NC_000010.9:g.96512322G>C NCBI36
NG_008384.2:g.4870G>C
NG_008384.3:g.4895G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000464755.1:c.932-12483G>C ENSP00000483243.1:n.932-12483G>C
Search 100 bp 5'
Search 100 bp 3'