Canonical Allele Identifier: CA828661944
Gene:

Linked Data

dbSNP Id: rs1249632936
gnomAD v3: 6-8169740-C-T
gnomAD v4: 6-8169740-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.8169740C>T , CM000668.2:g.8169740C>T GRCh38
NC_000006.11:g.8169973C>T , CM000668.1:g.8169973C>T GRCh37
NC_000006.10:g.8114972C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926440.1:n.82+11480C>T
XR_926441.1:n.189+1820C>T
XR_926442.1:n.82+11480C>T
XR_926443.1:n.82+11480C>T
XR_001743950.1:n.179+1820C>T
XR_926440.2:n.74+11480C>T
XR_926441.2:n.179+1820C>T
XR_926443.2:n.83+11480C>T