Canonical Allele Identifier: CA144319797
Gene:

Linked Data

dbSNP Id: rs534616137
gnomAD v3: 6-98102511-T-C
gnomAD v4: 6-98102511-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98102511T>C , CM000668.2:g.98102511T>C GRCh38
NC_000006.11:g.98550387T>C , CM000668.1:g.98550387T>C GRCh37
NC_000006.10:g.98657108T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_245563.2:n.456+3241T>C
XR_942809.1:n.456+3241T>C