Canonical Allele Identifier: CA2216888494
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31090840G= , CM000678.2:g.31090840G= GRCh38
NC_000016.9:g.31102161G= , CM000678.1:g.31102161G= GRCh37
NC_000016.8:g.31009662G= NCBI36
NG_011564.1:g.9116C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000529564.1:c.283+2472C= ENSP00000431371.1:n.283+2472C=
ENST00000532364.1:c.173+3717C= ENSP00000460316.1:n.173+3717C=
ENST00000533518.5:c.407+252C=