Canonical Allele Identifier: CA129996900

Gene:

Linked Data

• dbSNP Id: rs1012314745
• gnomAD v2: 5-151734019-G-T
• gnomAD v3: 5-152354458-G-T
• gnomAD v4: 5-152354458-G-T
• MyVariant Identifiers: chr5:g.151734019G>T (hg19) ; chr5:g.152354458G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.152354458G>T , CM000667.2:g.152354458G>T	GRCh38
NC_000005.9:g.151734019G>T , CM000667.1:g.151734019G>T	GRCh37
NC_000005.8:g.151714212G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_944433.1:n.196+16595G>T
XR_944433.2:n.197+16595G>T