Canonical Allele Identifier: CA1364758342
Gene:

Genomic Alleles

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

Transcript Alleles

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