Canonical Allele Identifier: CA972459628
Gene:

Linked Data

dbSNP Id: rs1895002376
gnomAD v3: 15-87419455-A-G
gnomAD v4: 15-87419455-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.87419455A>G , CM000677.2:g.87419455A>G GRCh38
NC_000015.9:g.87962686A>G , CM000677.1:g.87962686A>G GRCh37
NC_000015.8:g.85763690A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_932584.1:n.340-184T>C
XR_932585.1:n.340-184T>C
XR_001751647.1:n.617-184T>C
XR_932585.2:n.627-184T>C
Search 100 bp 5'
Search 100 bp 3'