Canonical Allele Identifier: CA2271197006
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.66240119T>C , CM000679.2:g.66240119T>C GRCh38
NC_000017.10:g.64236237T>C , CM000679.1:g.64236237T>C GRCh37
NC_000017.9:g.61666699T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000577982.1:c.-43-10697A>G ENSP00000464301.1:p.=