Canonical Allele Identifier: CA1085301505
Gene:

Linked Data

dbSNP Id: rs918552731
gnomAD v3: 6-1535651-C-G
gnomAD v4: 6-1535651-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1535651C>G , CM000668.2:g.1535651C>G GRCh38
NC_000006.11:g.1535886C>G , CM000668.1:g.1535886C>G GRCh37
NC_000006.10:g.1480885C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_427861.2:n.234+16695G>C
XR_926380.1:n.218-2805C>G
XR_926381.1:n.1108-2805C>G
XR_926382.1:n.235-6472G>C
XR_926384.1:n.200-6472G>C
XR_001743921.1:n.235-6496G>C
XR_427861.3:n.234+16695G>C
XR_926381.2:n.1123-2805C>G