Canonical Allele Identifier: CA1364758343
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52227015A= , CM000665.2:g.52227015A= GRCh38
NC_000003.11:g.52261031A= , CM000665.1:g.52261031A= GRCh37
NC_000003.10:g.52236071A= NCBI36
NG_033933.1:g.4149T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000478201.1:c.114-1380T=
ENST00000494383.1:c.463+2646T=