Canonical Allele Identifier: CA2014002177
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6276592T= , CM000674.2:g.6276592T= GRCh38
NC_000012.11:g.6385758T= , CM000674.1:g.6385758T= GRCh37
NC_000012.10:g.6256019T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001748976.1:n.157+16507A=
XR_001748977.1:n.157+16507A=
XR_001748978.1:n.157+16507A=
XR_001748979.1:n.157+16507A=
XR_001748980.1:n.157+16507A=