Canonical Allele Identifier: CA2782010874
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.122395939T>C , CM000670.2:g.122395939T>C GRCh38
NC_000008.10:g.123408178T>C , CM000670.1:g.123408178T>C GRCh37
NC_000008.9:g.123477359T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928599.1:n.152+3233A>G
XR_928599.3:n.152+3233A>G