Canonical Allele Identifier: CA1016258704
Gene:

Linked Data

dbSNP Id: rs1980375841
gnomAD v3: 20-23661619-G-C
gnomAD v4: 20-23661619-G-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23661619G>C , CM000682.2:g.23661619G>C GRCh38
NC_000020.10:g.23642256G>C , CM000682.1:g.23642256G>C GRCh37
NC_000020.9:g.23590256G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001754712.1:n.249G>C
Search 100 bp 5'
Search 100 bp 3'