Canonical Allele Identifier: CA1014783712

Gene:

Linked Data

• dbSNP Id: rs1600005533
• gnomAD v3: 20-2471018-G-T
• gnomAD v4: 20-2471018-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.2471018G>T , CM000682.2:g.2471018G>T	GRCh38
NC_000020.10:g.2451664G>T , CM000682.1:g.2451664G>T	GRCh37
NC_000020.9:g.2399664G>T	NCBI36
NG_042057.1:g.4836C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461548.1:c.305-3260C>A	ENSP00000456213.1:n.305-3260C>A