Canonical Allele Identifier: CA1016258703
Gene:

Linked Data

dbSNP Id: rs1356791370
gnomAD v3: 20-23661613-G-T
gnomAD v4: 20-23661613-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23661613G>T , CM000682.2:g.23661613G>T GRCh38
NC_000020.10:g.23642250G>T , CM000682.1:g.23642250G>T GRCh37
NC_000020.9:g.23590250G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001754712.1:n.243G>T
Search 100 bp 5'
Search 100 bp 3'