Canonical Allele Identifier: CA569191047
Gene:

Linked Data

dbSNP Id: rs1224429114
gnomAD v2: 6-98550341-A-G
gnomAD v3: 6-98102465-A-G
gnomAD v4: 6-98102465-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98102465A>G , CM000668.2:g.98102465A>G GRCh38
NC_000006.11:g.98550341A>G , CM000668.1:g.98550341A>G GRCh37
NC_000006.10:g.98657062A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_245563.2:n.456+3195A>G
XR_942809.1:n.456+3195A>G