Canonical Allele Identifier: CA742353607
Gene:

Linked Data

dbSNP Id: rs1203240851
gnomAD v3: 20-2471015-C-T
gnomAD v4: 20-2471015-C-T
MyVariant Identifiers: chr20:g.2451661C>T (hg19) chr20:g.2471015C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2471015C>T , CM000682.2:g.2471015C>T GRCh38
NC_000020.10:g.2451661C>T , CM000682.1:g.2451661C>T GRCh37
NC_000020.9:g.2399661C>T NCBI36
NG_042057.1:g.4839G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000461548.1:c.305-3257G>A ENSP00000456213.1:n.305-3257G>A
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