Canonical Allele Identifier: CA1014783700

Gene:

Linked Data

• dbSNP Id: rs1600005499
• gnomAD v3: 20-2471013-A-C
• gnomAD v4: 20-2471013-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.2471013A>C , CM000682.2:g.2471013A>C	GRCh38
NC_000020.10:g.2451659A>C , CM000682.1:g.2451659A>C	GRCh37
NC_000020.9:g.2399659A>C	NCBI36
NG_042057.1:g.4841T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461548.1:c.305-3255T>G	ENSP00000456213.1:n.305-3255T>G