Canonical Allele Identifier: CA739386932
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.817186G>T , CM000663.2:g.817186G>T GRCh38
NC_000001.10:g.752566G>T , CM000663.1:g.752566G>T GRCh37
NC_000001.9:g.742429G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000634337.2:n.127+10484C>A
ENST00000635509.2:n.100+10484C>A
ENST00000447500.4:n.340+187C>A