Canonical Allele Identifier: CA1608913633
Gene:

Linked Data

dbSNP Id: rs1581507520

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.8169436G>C , CM000668.2:g.8169436G>C GRCh38
NC_000006.11:g.8169669G>C , CM000668.1:g.8169669G>C GRCh37
NC_000006.10:g.8114668G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926440.1:n.82+11176G>C
XR_926441.1:n.189+1516G>C
XR_926442.1:n.82+11176G>C
XR_926443.1:n.82+11176G>C
XR_001743950.1:n.179+1516G>C
XR_926440.2:n.74+11176G>C
XR_926441.2:n.179+1516G>C
XR_926443.2:n.83+11176G>C