Canonical Allele Identifier: CA9191406
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10316041G>A , CM000681.2:g.10316041G>A GRCh38
NC_000019.9:g.10426717G>A , CM000681.1:g.10426717G>A GRCh37
NC_000019.8:g.10287717G>A NCBI36
NG_034259.1:g.4975C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000586529.1:c.1750C>T ENSP00000467814.1:n.1750C>T