Canonical Allele Identifier: CA2364006906
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.40632414A>C , CM000682.2:g.40632414A>C GRCh38
NC_000020.10:g.39261054A>C , CM000682.1:g.39261054A>C GRCh37
NC_000020.9:g.38694468A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001754596.1:n.243+3174T>G
XR_001754597.1:n.180+11497T>G