Canonical Allele Identifier: CA1111564404
Gene:

Linked Data

dbSNP Id: rs1241188163
gnomAD v3: 8-20130162-G-C
gnomAD v4: 8-20130162-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.20130162G>C , CM000670.2:g.20130162G>C GRCh38
NC_000008.10:g.19987673G>C , CM000670.1:g.19987673G>C GRCh37
NC_000008.9:g.20031953G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_949563.1:n.3408+243G>C
XR_949563.2:n.3400+243G>C
Search 100 bp 5'
Search 100 bp 3'