Canonical Allele Identifier: CA134548277
Gene:

Linked Data

dbSNP Id: rs915711473
gnomAD v3: 6-8169654-A-G
gnomAD v4: 6-8169654-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.8169654A>G , CM000668.2:g.8169654A>G GRCh38
NC_000006.11:g.8169887A>G , CM000668.1:g.8169887A>G GRCh37
NC_000006.10:g.8114886A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926440.1:n.82+11394A>G
XR_926441.1:n.189+1734A>G
XR_926442.1:n.82+11394A>G
XR_926443.1:n.82+11394A>G
XR_001743950.1:n.179+1734A>G
XR_926440.2:n.74+11394A>G
XR_926441.2:n.179+1734A>G
XR_926443.2:n.83+11394A>G