Canonical Allele Identifier: CA565162883
Gene:

Linked Data

dbSNP Id: rs1267848751
gnomAD v2: 6-1536082-C-A
gnomAD v3: 6-1535847-C-A
gnomAD v4: 6-1535847-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1535847C>A , CM000668.2:g.1535847C>A GRCh38
NC_000006.11:g.1536082C>A , CM000668.1:g.1536082C>A GRCh37
NC_000006.10:g.1481081C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_427861.2:n.234+16499G>T
XR_926380.1:n.218-2609C>A
XR_926381.1:n.1108-2609C>A
XR_926382.1:n.235-6668G>T
XR_926384.1:n.200-6668G>T
XR_001743921.1:n.235-6692G>T
XR_427861.3:n.234+16499G>T
XR_926381.2:n.1123-2609C>A