Canonical Allele Identifier: CA175154045

Gene:

Linked Data

• dbSNP Id: rs62513671
• gnomAD v2: 8-33665885-C-T
• MyVariant Identifiers: chr8:g.33665885C>T (hg19) ; chr8:g.33808367C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.33808367C>T , CM000670.2:g.33808367C>T	GRCh38
NC_000008.10:g.33665885C>T , CM000670.1:g.33665885C>T	GRCh37
NC_000008.9:g.33785427C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_949659.1:n.240+11931C>T
XR_002956701.1:n.240+11931C>T