Canonical Allele Identifier: CA2543857835
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63498386G>A , CM000679.2:g.63498386G>A GRCh38
NC_000017.10:g.61575747G>A , CM000679.1:g.61575747G>A GRCh37
NC_000017.9:g.58929479G>A NCBI36
NG_011648.1:g.26314G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000577647.2:c.1969+1401G>A ENSP00000464149.1:n.1969+1401G>A