Canonical Allele Identifier: CA2595952630

Gene:

Linked Data

• dbSNP Id: rs2040646162
• gnomAD v3: 3-39263228-C-T
• gnomAD v4: 3-39263228-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39263228C>T , CM000665.2:g.39263228C>T	GRCh38
NC_000003.11:g.39304719C>T , CM000665.1:g.39304719C>T	GRCh37
NC_000003.10:g.39279723C>T	NCBI36
NG_016362.1:g.23508G>A

Transcript Alleles

HGVS	Amino-acid change
XR_001740660.2:n.2745C>T