Canonical Allele Identifier: CA202788769
Gene:

Linked Data

dbSNP Id: rs1013754150
gnomAD v3: 10-8697443-G-C
gnomAD v4: 10-8697443-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8697443G>C , CM000672.2:g.8697443G>C GRCh38
NC_000010.10:g.8739406G>C , CM000672.1:g.8739406G>C GRCh37
NC_000010.9:g.8779412G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_930641.1:n.33-27642C>G