Canonical Allele Identifier: CA134548289
Gene:

Linked Data

dbSNP Id: rs564773084
gnomAD v3: 6-8169748-C-T
gnomAD v4: 6-8169748-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.8169748C>T , CM000668.2:g.8169748C>T GRCh38
NC_000006.11:g.8169981C>T , CM000668.1:g.8169981C>T GRCh37
NC_000006.10:g.8114980C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926440.1:n.82+11488C>T
XR_926441.1:n.189+1828C>T
XR_926442.1:n.82+11488C>T
XR_926443.1:n.82+11488C>T
XR_001743950.1:n.179+1828C>T
XR_926440.2:n.74+11488C>T
XR_926441.2:n.179+1828C>T
XR_926443.2:n.83+11488C>T