Canonical Allele Identifier: CA648897288
Gene:

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54228586C>T , CM000666.2:g.54228586C>T GRCh38
NC_000004.11:g.55094753C>T , CM000666.1:g.55094753C>T GRCh37
NC_000004.10:g.54789510C>T NCBI36
NG_009250.1:g.4490C>T , LRG_309:g.4490C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000507166.5:c.1018-46339C>T ENSP00000423325.1:n.1018-46339C>T