Canonical Allele Identifier: CA2649624254
Gene:

Linked Data

dbSNP Id: rs1038072511
gnomAD v4: 1-193121774-A-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.193121774A>C , CM000663.2:g.193121774A>C GRCh38
NC_000001.10:g.193090904A>C , CM000663.1:g.193090904A>C GRCh37
NC_000001.9:g.191357527A>C NCBI36
NG_012691.1:g.4817A>C , LRG_507:g.4817A>C

Transcript Alleles

HGVS Amino-acid Change
XR_001738350.1:n.1883T>G
Search 100 bp 5'
Search 100 bp 3'