Canonical Allele Identifier: CA310850280

Gene:

Linked Data

• dbSNP Id: rs17173287
• gnomAD v2: 20-2451619-C-T
• gnomAD v3: 20-2470973-C-T
• gnomAD v4: 20-2470973-C-T
• MyVariant Identifiers: chr20:g.2451619C>T (hg19) ; chr20:g.2470973C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.2470973C>T , CM000682.2:g.2470973C>T	GRCh38
NC_000020.10:g.2451619C>T , CM000682.1:g.2451619C>T	GRCh37
NC_000020.9:g.2399619C>T	NCBI36
NG_042057.1:g.4881G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461548.1:c.305-3215G>A	ENSP00000456213.1:n.305-3215G>A