Canonical Allele Identifier: CA2013133219
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4381178C= , CM000674.2:g.4381178C= GRCh38
NC_000012.11:g.4490344C= , CM000674.1:g.4490344C= GRCh37
NC_000012.10:g.4360605C= NCBI36
NG_007087.1:g.3551G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000648100.1:c.*1967+14896C= ENSP00000497536.1:n.*1967+14896C=
ENST00000674624.1:c.*1204+14896C= ENSP00000501898.1:n.*1204+14896C=