Canonical Allele Identifier: CA820925345
Gene:

Linked Data

dbSNP Id: rs1304068364
gnomAD v3: 6-1535829-G-A
gnomAD v4: 6-1535829-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1535829G>A , CM000668.2:g.1535829G>A GRCh38
NC_000006.11:g.1536064G>A , CM000668.1:g.1536064G>A GRCh37
NC_000006.10:g.1481063G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_427861.2:n.234+16517C>T
XR_926380.1:n.218-2627G>A
XR_926381.1:n.1108-2627G>A
XR_926382.1:n.235-6650C>T
XR_926384.1:n.200-6650C>T
XR_001743921.1:n.235-6674C>T
XR_427861.3:n.234+16517C>T
XR_926381.2:n.1123-2627G>A