Canonical Allele Identifier: CA133613588
Gene:

Linked Data

dbSNP Id: rs1006120714
gnomAD v3: 6-1535647-A-G
gnomAD v4: 6-1535647-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1535647A>G , CM000668.2:g.1535647A>G GRCh38
NC_000006.11:g.1535882A>G , CM000668.1:g.1535882A>G GRCh37
NC_000006.10:g.1480881A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_427861.2:n.234+16699T>C
XR_926380.1:n.218-2809A>G
XR_926381.1:n.1108-2809A>G
XR_926382.1:n.235-6468T>C
XR_926384.1:n.200-6468T>C
XR_001743921.1:n.235-6492T>C
XR_427861.3:n.234+16699T>C
XR_926381.2:n.1123-2809A>G