Canonical Allele Identifier: CA742353575
Gene:

Linked Data

dbSNP Id: rs1321005779
gnomAD v4: 20-2470987-G-T
MyVariant Identifiers: chr20:g.2451633G>T (hg19) chr20:g.2470987G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2470987G>T , CM000682.2:g.2470987G>T GRCh38
NC_000020.10:g.2451633G>T , CM000682.1:g.2451633G>T GRCh37
NC_000020.9:g.2399633G>T NCBI36
NG_042057.1:g.4867C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000461548.1:c.305-3229C>A ENSP00000456213.1:n.305-3229C>A
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