Canonical Allele Identifier: CA185690305

Gene:

Linked Data

• dbSNP Id: rs866671706
• gnomAD v2: 8-128024837-C-T
• gnomAD v3: 8-127012592-C-T
• gnomAD v4: 8-127012592-C-T
• MyVariant Identifiers: chr8:g.128024837C>T (hg19) ; chr8:g.127012592C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.127012592C>T , CM000670.2:g.127012592C>T	GRCh38
NC_000008.10:g.128024837C>T , CM000670.1:g.128024837C>T	GRCh37
NC_000008.9:g.128094019C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001746076.2:n.1364+5974C>T