Canonical Allele Identifier: CA2743714950
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.56262279C>A , CM000663.2:g.56262279C>A GRCh38
NC_000001.10:g.56727951C>A , CM000663.1:g.56727951C>A GRCh37
NC_000001.9:g.56500539C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000641109.1:c.760-13079G>T ENSP00000493138.1:n.760-13079G>T
ENST00000641346.1:c.367-13079G>T
ENST00000641415.1:c.193-8386G>T
ENST00000641494.1:c.379-13079G>T
ENST00000642129.1:c.769-13079G>T