Canonical Allele Identifier: CA129996955

Gene:

Linked Data

• dbSNP Id: rs867085038
• gnomAD v2: 5-151734119-T-C
• gnomAD v3: 5-152354558-T-C
• gnomAD v4: 5-152354558-T-C
• MyVariant Identifiers: chr5:g.151734119T>C (hg19) ; chr5:g.152354558T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.152354558T>C , CM000667.2:g.152354558T>C	GRCh38
NC_000005.9:g.151734119T>C , CM000667.1:g.151734119T>C	GRCh37
NC_000005.8:g.151714312T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_944433.1:n.196+16695T>C
XR_944433.2:n.197+16695T>C