Canonical Allele Identifier: CA981245813
Gene:

Linked Data

dbSNP Id: rs1598240977
gnomAD v3: 17-8137719-G-C
gnomAD v4: 17-8137719-G-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8137719G>C , CM000679.2:g.8137719G>C GRCh38
NC_000017.10:g.8041037G>C , CM000679.1:g.8041037G>C GRCh37
NC_000017.9:g.7981762G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_934202.1:n.183-1130G>C
XR_934203.1:n.70-1758G>C
XR_934202.2:n.414-1130G>C
Search 100 bp 5'
Search 100 bp 3'