Canonical Allele Identifier: CA144319792
Gene:

Linked Data

dbSNP Id: rs186524128
gnomAD v3: 6-98102500-T-C
gnomAD v4: 6-98102500-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98102500T>C , CM000668.2:g.98102500T>C GRCh38
NC_000006.11:g.98550376T>C , CM000668.1:g.98550376T>C GRCh37
NC_000006.10:g.98657097T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_245563.2:n.456+3230T>C
XR_942809.1:n.456+3230T>C