Canonical Allele Identifier: CA828661863
Gene:

Linked Data

dbSNP Id: rs1194282860
gnomAD v3: 6-8169427-A-C
gnomAD v4: 6-8169427-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.8169427A>C , CM000668.2:g.8169427A>C GRCh38
NC_000006.11:g.8169660A>C , CM000668.1:g.8169660A>C GRCh37
NC_000006.10:g.8114659A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926440.1:n.82+11167A>C
XR_926441.1:n.189+1507A>C
XR_926442.1:n.82+11167A>C
XR_926443.1:n.82+11167A>C
XR_001743950.1:n.179+1507A>C
XR_926440.2:n.74+11167A>C
XR_926441.2:n.179+1507A>C
XR_926443.2:n.83+11167A>C