Canonical Allele Identifier: CA830285628
Gene:

Linked Data

dbSNP Id: rs1216869419
gnomAD v3: 6-98102490-A-G
gnomAD v4: 6-98102490-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98102490A>G , CM000668.2:g.98102490A>G GRCh38
NC_000006.11:g.98550366A>G , CM000668.1:g.98550366A>G GRCh37
NC_000006.10:g.98657087A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_245563.2:n.456+3220A>G
XR_942809.1:n.456+3220A>G