Canonical Allele Identifier: CA1948159599
Gene:

Linked Data

dbSNP Id: rs1845997729
gnomAD v4: 11-2444539-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444539G>A , CM000673.2:g.2444539G>A GRCh38
NC_000011.9:g.2465769G>A , CM000673.1:g.2465769G>A GRCh37
NC_000011.8:g.2422345G>A NCBI36
NG_008935.1:g.4549G>A , LRG_287:g.4549G>A

Transcript Alleles

HGVS Amino-acid Change
XR_930984.1:n.32C>T
Search 100 bp 5'
Search 100 bp 3'