Canonical Allele Identifier: CA133613586
Gene:

Linked Data

dbSNP Id: rs866445790
gnomAD v3: 6-1535601-C-A
gnomAD v4: 6-1535601-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1535601C>A , CM000668.2:g.1535601C>A GRCh38
NC_000006.11:g.1535836C>A , CM000668.1:g.1535836C>A GRCh37
NC_000006.10:g.1480835C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_427861.2:n.234+16745G>T
XR_926380.1:n.218-2855C>A
XR_926381.1:n.1108-2855C>A
XR_926382.1:n.235-6422G>T
XR_926384.1:n.200-6422G>T
XR_001743921.1:n.235-6446G>T
XR_427861.3:n.234+16745G>T
XR_926381.2:n.1123-2855C>A