Canonical Allele Identifier: CA1608913621
Gene:

Linked Data

dbSNP Id: rs1759189844
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.8169422A>C , CM000668.2:g.8169422A>C GRCh38
NC_000006.11:g.8169655A>C , CM000668.1:g.8169655A>C GRCh37
NC_000006.10:g.8114654A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926440.1:n.82+11162A>C
XR_926441.1:n.189+1502A>C
XR_926442.1:n.82+11162A>C
XR_926443.1:n.82+11162A>C
XR_001743950.1:n.179+1502A>C
XR_926440.2:n.74+11162A>C
XR_926441.2:n.179+1502A>C
XR_926443.2:n.83+11162A>C
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