Canonical Allele Identifier: CA1063282113

Gene:

Linked Data

• dbSNP Id: rs1650114793
• gnomAD v3: 4-62558061-C-T
• gnomAD v4: 4-62558061-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.62558061C>T , CM000666.2:g.62558061C>T	GRCh38
NC_000004.11:g.63423779C>T , CM000666.1:g.63423779C>T	GRCh37
NC_000004.10:g.63106374C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_938814.1:n.161-5783C>T