Canonical Allele Identifier: CA2363991838
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.40600144C>G , CM000682.2:g.40600144C>G GRCh38
NC_000020.10:g.39228784C>G , CM000682.1:g.39228784C>G GRCh37
NC_000020.9:g.38662198C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_430319.2:n.113-2206G>C
XR_001754596.1:n.472-2206G>C
XR_001754597.1:n.409-2206G>C