Canonical Allele Identifier: CA2639246528
Gene:

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63498384C>A , CM000679.2:g.63498384C>A GRCh38
NC_000017.10:g.61575745C>A , CM000679.1:g.61575745C>A GRCh37
NC_000017.9:g.58929477C>A NCBI36
NG_011648.1:g.26312C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000577647.2:c.1969+1399C>A ENSP00000464149.1:n.1969+1399C>A