Canonical Allele Identifier: CA1104155250
Gene:

Linked Data

dbSNP Id: rs1840055048
gnomAD v3: 7-87913801-T-G
gnomAD v4: 7-87913801-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87913801T>G , CM000669.2:g.87913801T>G GRCh38
NC_000007.13:g.87543116T>G , CM000669.1:g.87543116T>G GRCh37
NC_000007.12:g.87381052T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_927723.1:n.148+100A>C
XR_927724.1:n.192+100A>C
Search 100 bp 5'
Search 100 bp 3'