Canonical Allele Identifier: CA173376549

Gene:

Linked Data

• dbSNP Id: rs550010474
• gnomAD v2: 8-19987765-C-T
• gnomAD v3: 8-20130254-C-T
• gnomAD v4: 8-20130254-C-T
• MyVariant Identifiers: chr8:g.19987765C>T (hg19) ; chr8:g.20130254C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.20130254C>T , CM000670.2:g.20130254C>T	GRCh38
NC_000008.10:g.19987765C>T , CM000670.1:g.19987765C>T	GRCh37
NC_000008.9:g.20032045C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_949563.1:n.3408+335C>T
XR_949563.2:n.3400+335C>T