Canonical Allele Identifier: CA2469660204
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2789303G= , CM000686.2:g.2789303G= GRCh38
NC_000024.9:g.2657344G= , CM000686.1:g.2657344G= GRCh37
NC_000024.8:g.2717344G= NCBI36
NG_011751.1:g.3449C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000679518.1:n.106+14564G=
ENST00000680285.1:n.320-446G=
ENST00000681787.1:n.106+14564G=
ENST00000681940.1:n.106+14564G=