Canonical Allele Identifier: CA1948159619
Gene:

Linked Data

dbSNP Id: rs1445939679
gnomAD v4: 11-2444550-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444550C>T , CM000673.2:g.2444550C>T GRCh38
NC_000011.9:g.2465780C>T , CM000673.1:g.2465780C>T GRCh37
NC_000011.8:g.2422356C>T NCBI36
NG_008935.1:g.4560C>T , LRG_287:g.4560C>T

Transcript Alleles

HGVS Amino-acid Change
XR_930984.1:n.21G>A
Search 100 bp 5'
Search 100 bp 3'