Canonical Allele Identifier: CA742353531
Gene:

Linked Data

dbSNP Id: rs1248915025
gnomAD v3: 20-2470916-C-A
gnomAD v4: 20-2470916-C-A
MyVariant Identifiers: chr20:g.2451562C>A (hg19) chr20:g.2470916C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2470916C>A , CM000682.2:g.2470916C>A GRCh38
NC_000020.10:g.2451562C>A , CM000682.1:g.2451562C>A GRCh37
NC_000020.9:g.2399562C>A NCBI36
NG_042057.1:g.4938G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000461548.1:c.305-3158G>T ENSP00000456213.1:n.305-3158G>T
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