Canonical Allele Identifier: CA2469660203
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2789218G= , CM000686.2:g.2789218G= GRCh38
NC_000024.9:g.2657259G= , CM000686.1:g.2657259G= GRCh37
NC_000024.8:g.2717259G= NCBI36
NG_011751.1:g.3534C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000679518.1:n.106+14479G=
ENST00000680285.1:n.320-531G=
ENST00000681787.1:n.106+14479G=
ENST00000681940.1:n.106+14479G=