Canonical Allele Identifier: CA216951852
Gene:

Linked Data

dbSNP Id: rs10794338
gnomAD v2: 11-746992-T-G
gnomAD v3: 11-746992-T-G
gnomAD v4: 11-746992-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.746992T>G , CM000673.2:g.746992T>G GRCh38
NC_000011.9:g.746992T>G , CM000673.1:g.746992T>G GRCh37
NC_000011.8:g.736992T>G NCBI36
NG_008160.1:g.4561T>G

Transcript Alleles

HGVS Amino-acid change
XR_930963.1:n.259+143T>G