Canonical Allele Identifier: CA213115
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.624528G>C , CM000686.2:g.624528G>C GRCh38
NC_000024.9:g.535263G>C , CM000686.1:g.535263G>C GRCh37
NC_000024.8:g.505263G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000711143.1:c.-507G>C ENSP00000518641.1:n.-507G>C
ENST00000711145.1:c.-507G>C ENSP00000518642.1:n.-507G>C