Canonical Allele Identifier: CA2841191375
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56899970A>G , CM000667.2:g.56899970A>G GRCh38
NC_000005.9:g.56195797A>G , CM000667.1:g.56195797A>G GRCh37
NC_000005.8:g.56231554A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948346.1:n.83-1674T>C
XR_948347.1:n.76+27T>C
XR_948347.3:n.406+27T>C