Canonical Allele Identifier: CA2469660188
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2789135C= , CM000686.2:g.2789135C= GRCh38
NC_000024.9:g.2657176C= , CM000686.1:g.2657176C= GRCh37
NC_000024.8:g.2717176C= NCBI36
NG_011751.1:g.3617G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000679518.1:n.106+14396C=
ENST00000680285.1:n.320-614C=
ENST00000681787.1:n.106+14396C=
ENST00000681940.1:n.106+14396C=