Canonical Allele Identifier: CA2469661900
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2822636C= , CM000686.2:g.2822636C= GRCh38
NC_000024.9:g.2690677C= , CM000686.1:g.2690677C= GRCh37
NC_000024.8:g.2750677C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000679518.1:n.107-18850C=
ENST00000681787.1:n.107-18392C=
ENST00000681940.1:n.107-23010C=