Canonical Allele Identifier: CA127176614
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132053814T>G , CM000667.2:g.132053814T>G GRCh38
NC_000005.9:g.131389507T>G , CM000667.1:g.131389507T>G GRCh37
NC_000005.8:g.131417406T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948785.1:n.229-210A>C
XR_001742531.1:n.244-210A>C
XR_948785.2:n.252-210A>C