Canonical Allele Identifier: CA943450495
Gene:

Linked Data

dbSNP Id: rs1861798179
gnomAD v3: 11-128455651-G-A
gnomAD v4: 11-128455651-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128455651G>A , CM000673.2:g.128455651G>A GRCh38
NC_000011.9:g.128325546G>A , CM000673.1:g.128325546G>A GRCh37
NC_000011.8:g.127830756G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_948164.1:n.4371G>A
XR_948165.1:n.3467+904G>A
Search 100 bp 5'
Search 100 bp 3'