Canonical Allele Identifier: CA2000590686
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112166655G= , CM000673.2:g.112166655G= GRCh38
NC_000011.9:g.112037378G= , CM000673.1:g.112037378G= GRCh37
NC_000011.8:g.111542588G= NCBI36
NG_028143.1:g.2463C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000525987.5:n.320-3764G=
ENST00000531744.5:c.315-3764G= ENSP00000456957.1:n.315-3764G=
ENST00000532699.1:c.315-3764G= ENSP00000456434.1:n.315-3764G=