Canonical Allele Identifier: CA2810114706
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63498397G>C , CM000679.2:g.63498397G>C GRCh38
NC_000017.10:g.61575758G>C , CM000679.1:g.61575758G>C GRCh37
NC_000017.9:g.58929490G>C NCBI36
NG_011648.1:g.26325G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000577647.2:c.1969+1412G>C ENSP00000464149.1:n.1969+1412G>C