Canonical Allele Identifier: CA134548238
Gene:

Linked Data

dbSNP Id: rs948632580
gnomAD v2: 6-8169622-T-A
gnomAD v3: 6-8169389-T-A
gnomAD v4: 6-8169389-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.8169389T>A , CM000668.2:g.8169389T>A GRCh38
NC_000006.11:g.8169622T>A , CM000668.1:g.8169622T>A GRCh37
NC_000006.10:g.8114621T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926440.1:n.82+11129T>A
XR_926441.1:n.189+1469T>A
XR_926442.1:n.82+11129T>A
XR_926443.1:n.82+11129T>A
XR_001743950.1:n.179+1469T>A
XR_926440.2:n.74+11129T>A
XR_926441.2:n.179+1469T>A
XR_926443.2:n.83+11129T>A