Canonical Allele Identifier: CA836257747
Gene:

Linked Data

dbSNP Id: rs1415610063
gnomAD v3: 7-17957861-G-A
gnomAD v4: 7-17957861-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.17957861G>A , CM000669.2:g.17957861G>A GRCh38
NC_000007.13:g.17997484G>A , CM000669.1:g.17997484G>A GRCh37
NC_000007.12:g.17964009G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_927078.1:n.271-809G>A