Canonical Allele Identifier: CA820925364
Gene:

Linked Data

dbSNP Id: rs1423727289
gnomAD v3: 6-1535878-G-A
gnomAD v4: 6-1535878-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1535878G>A , CM000668.2:g.1535878G>A GRCh38
NC_000006.11:g.1536113G>A , CM000668.1:g.1536113G>A GRCh37
NC_000006.10:g.1481112G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_427861.2:n.234+16468C>T
XR_926380.1:n.218-2578G>A
XR_926381.1:n.1108-2578G>A
XR_926382.1:n.235-6699C>T
XR_926384.1:n.200-6699C>T
XR_001743921.1:n.235-6723C>T
XR_427861.3:n.234+16468C>T
XR_926381.2:n.1123-2578G>A