Canonical Allele Identifier: CA564088951

Gene:

Linked Data

• dbSNP Id: rs1218276005
• gnomAD v2: 5-159007788-T-C
• gnomAD v3: 5-159580780-T-C
• gnomAD v4: 5-159580780-T-C
• MyVariant Identifiers: chr5:g.159007788T>C (hg19) ; chr5:g.159580780T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.159580780T>C , CM000667.2:g.159580780T>C	GRCh38
NC_000005.9:g.159007788T>C , CM000667.1:g.159007788T>C	GRCh37
NC_000005.8:g.158940366T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_941139.1:n.2075+345T>C
XR_941140.1:n.2075+345T>C
XR_941141.1:n.570+345T>C
XR_941139.2:n.2229+345T>C