Canonical Allele Identifier: CA129996904

Gene:

Linked Data

• dbSNP Id: rs1025090951
• gnomAD v2: 5-151734037-C-T
• gnomAD v3: 5-152354476-C-T
• gnomAD v4: 5-152354476-C-T
• MyVariant Identifiers: chr5:g.151734037C>T (hg19) ; chr5:g.152354476C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.152354476C>T , CM000667.2:g.152354476C>T	GRCh38
NC_000005.9:g.151734037C>T , CM000667.1:g.151734037C>T	GRCh37
NC_000005.8:g.151714230C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_944433.1:n.196+16613C>T
XR_944433.2:n.197+16613C>T