Canonical Allele Identifier: CA742240634
Gene:

Linked Data

dbSNP Id: rs1419181029

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23661784T>C , CM000682.2:g.23661784T>C GRCh38
NC_000020.10:g.23642421T>C , CM000682.1:g.23642421T>C GRCh37
NC_000020.9:g.23590421T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001754712.1:n.280+134T>C