Canonical Allele Identifier: CA2470000690
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.8599012G= , CM000686.2:g.8599012G= GRCh38
NC_000024.9:g.8467053G= , CM000686.1:g.8467053G= GRCh37
NC_000024.8:g.8527053G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000624507.1:c.89+5983C= ENSP00000485522.1:n.89+5983C=
ENST00000624593.1:c.93-20389C= ENSP00000485106.1:n.93-20389C=