Canonical Allele Identifier: CA828661951
Gene:

Linked Data

dbSNP Id: rs1311997156
gnomAD v3: 6-8169746-A-G
gnomAD v4: 6-8169746-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.8169746A>G , CM000668.2:g.8169746A>G GRCh38
NC_000006.11:g.8169979A>G , CM000668.1:g.8169979A>G GRCh37
NC_000006.10:g.8114978A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926440.1:n.82+11486A>G
XR_926441.1:n.189+1826A>G
XR_926442.1:n.82+11486A>G
XR_926443.1:n.82+11486A>G
XR_001743950.1:n.179+1826A>G
XR_926440.2:n.74+11486A>G
XR_926441.2:n.179+1826A>G
XR_926443.2:n.83+11486A>G