Canonical Allele Identifier: CA1608914041
Gene:

Linked Data

dbSNP Id: rs568950637

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.8169824T>C , CM000668.2:g.8169824T>C GRCh38
NC_000006.11:g.8170057T>C , CM000668.1:g.8170057T>C GRCh37
NC_000006.10:g.8115056T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926440.1:n.82+11564T>C
XR_926441.1:n.189+1904T>C
XR_926442.1:n.82+11564T>C
XR_926443.1:n.82+11564T>C
XR_001743950.1:n.179+1904T>C
XR_926440.2:n.74+11564T>C
XR_926441.2:n.179+1904T>C
XR_926443.2:n.83+11564T>C