Canonical Allele Identifier: CA101482557
Gene:

Linked Data

dbSNP Id: rs942204644
gnomAD v3: 4-89597802-A-G
gnomAD v4: 4-89597802-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.89597802A>G , CM000666.2:g.89597802A>G GRCh38
NC_000004.11:g.90518953A>G , CM000666.1:g.90518953A>G GRCh37
NC_000004.10:g.90737976A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938986.1:n.298+9862A>G
XR_938987.1:n.433-351A>G
XR_938988.1:n.299-351A>G
XR_938990.1:n.298+9862A>G
XR_938991.1:n.298+9862A>G
XR_938992.1:n.298+9862A>G
XR_938994.1:n.643+9862A>G
XR_938995.1:n.477+9862A>G
XR_938996.1:n.298+9862A>G
XR_938997.1:n.298+9862A>G
XR_938986.2:n.323+9862A>G
XR_938987.2:n.493-351A>G