Canonical Allele Identifier: CA828661886
Gene:

Linked Data

dbSNP Id: rs1224809576
gnomAD v3: 6-8169549-T-G
gnomAD v4: 6-8169549-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.8169549T>G , CM000668.2:g.8169549T>G GRCh38
NC_000006.11:g.8169782T>G , CM000668.1:g.8169782T>G GRCh37
NC_000006.10:g.8114781T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926440.1:n.82+11289T>G
XR_926441.1:n.189+1629T>G
XR_926442.1:n.82+11289T>G
XR_926443.1:n.82+11289T>G
XR_001743950.1:n.179+1629T>G
XR_926440.2:n.74+11289T>G
XR_926441.2:n.179+1629T>G
XR_926443.2:n.83+11289T>G