Canonical Allele Identifier: CA129965329
Gene:

Linked Data

dbSNP Id: rs949754354
gnomAD v3: 5-159580658-G-C
gnomAD v4: 5-159580658-G-C
MyVariant Identifiers: chr5:g.159007666G>C (hg19) chr5:g.159580658G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.159580658G>C , CM000667.2:g.159580658G>C GRCh38
NC_000005.9:g.159007666G>C , CM000667.1:g.159007666G>C GRCh37
NC_000005.8:g.158940244G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_941139.1:n.2075+223G>C
XR_941140.1:n.2075+223G>C
XR_941141.1:n.570+223G>C
XR_941139.2:n.2229+223G>C
Search 100 bp 5'
Search 100 bp 3'