Canonical Allele Identifier: CA1775343197
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.33808423C= , CM000670.2:g.33808423C= GRCh38
NC_000008.10:g.33665941C= , CM000670.1:g.33665941C= GRCh37
NC_000008.9:g.33785483C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_949659.1:n.240+11987C=
XR_002956701.1:n.240+11987C=