Canonical Allele Identifier: CA16339285
Community Standard Title: NC_000008.11:g.75124209T>C
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.75124209T>C , CM000670.2:g.75124209T>C GRCh38
NC_000008.10:g.76036444T>C , CM000670.1:g.76036444T>C GRCh37
NC_000008.9:g.76198999T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_929058.1:n.73+1777T>C
XR_929058.2:n.203+1777T>C