Canonical Allele Identifier: CA1111564350

Gene:

Linked Data

• dbSNP Id: rs2071238823
• gnomAD v3: 8-20130019-C-G
• gnomAD v4: 8-20130019-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.20130019C>G , CM000670.2:g.20130019C>G	GRCh38
NC_000008.10:g.19987530C>G , CM000670.1:g.19987530C>G	GRCh37
NC_000008.9:g.20031810C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_949563.1:n.3408+100C>G
XR_949563.2:n.3400+100C>G