Canonical Allele Identifier: CA2193710579
Gene:

Linked Data

dbSNP Id: rs1895002617
gnomAD v3: 15-87419470-T-C
gnomAD v4: 15-87419470-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.87419470T>C , CM000677.2:g.87419470T>C GRCh38
NC_000015.9:g.87962701T>C , CM000677.1:g.87962701T>C GRCh37
NC_000015.8:g.85763705T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_932584.1:n.340-199A>G
XR_932585.1:n.340-199A>G
XR_001751647.1:n.617-199A>G
XR_932585.2:n.627-199A>G
Search 100 bp 5'
Search 100 bp 3'