Canonical Allele Identifier: CA1769199642

Gene:

Linked Data

• dbSNP Id: rs2071240777
• gnomAD v3: 8-20130270-C-T
• gnomAD v4: 8-20130270-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.20130270C>T , CM000670.2:g.20130270C>T	GRCh38
NC_000008.10:g.19987781C>T , CM000670.1:g.19987781C>T	GRCh37
NC_000008.9:g.20032061C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_949563.1:n.3408+351C>T
XR_949563.2:n.3400+351C>T