Canonical Allele Identifier: CA828760836
Gene:

Linked Data

dbSNP Id: rs1279031689
gnomAD v3: 6-8228603-T-G
gnomAD v4: 6-8228603-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.8228603T>G , CM000668.2:g.8228603T>G GRCh38
NC_000006.11:g.8228836T>G , CM000668.1:g.8228836T>G GRCh37
NC_000006.10:g.8173835T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926440.1:n.83-1511T>G
XR_926441.1:n.190-10328T>G
XR_926442.1:n.83-1511T>G
XR_926443.1:n.83-10328T>G
XR_001743950.1:n.180-10328T>G
XR_926440.2:n.75-1511T>G
XR_926441.2:n.180-10328T>G
XR_926443.2:n.84-10328T>G