Canonical Allele Identifier: CA129965398

Gene:

Linked Data

• dbSNP Id: rs974157432
• gnomAD v3: 5-159580793-T-C
• gnomAD v4: 5-159580793-T-C
• MyVariant Identifiers: chr5:g.159007801T>C (hg19) ; chr5:g.159580793T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.159580793T>C , CM000667.2:g.159580793T>C	GRCh38
NC_000005.9:g.159007801T>C , CM000667.1:g.159007801T>C	GRCh37
NC_000005.8:g.158940379T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_941139.1:n.2075+358T>C
XR_941140.1:n.2075+358T>C
XR_941141.1:n.570+358T>C
XR_941139.2:n.2229+358T>C