Canonical Allele Identifier: CA799758323
Gene:

Linked Data

dbSNP Id: rs1196535991
gnomAD v3: 4-89598032-T-G
gnomAD v4: 4-89598032-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.89598032T>G , CM000666.2:g.89598032T>G GRCh38
NC_000004.11:g.90519183T>G , CM000666.1:g.90519183T>G GRCh37
NC_000004.10:g.90738206T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938986.1:n.298+10092T>G
XR_938987.1:n.433-121T>G
XR_938988.1:n.299-121T>G
XR_938990.1:n.298+10092T>G
XR_938991.1:n.298+10092T>G
XR_938992.1:n.298+10092T>G
XR_938994.1:n.643+10092T>G
XR_938995.1:n.477+10092T>G
XR_938996.1:n.298+10092T>G
XR_938997.1:n.298+10092T>G
XR_938986.2:n.323+10092T>G
XR_938987.2:n.493-121T>G