Canonical Allele Identifier: CA855697532
Gene:

Linked Data

dbSNP Id: rs1220948654
gnomAD v3: 8-79191161-T-C
gnomAD v4: 8-79191161-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.79191161T>C , CM000670.2:g.79191161T>C GRCh38
NC_000008.10:g.80103396T>C , CM000670.1:g.80103396T>C GRCh37
NC_000008.9:g.80265951T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745720.1:n.105+790T>C