Canonical Allele Identifier: CA134049559
Gene:

Linked Data

dbSNP Id: rs751506659
gnomAD v2: 6-8525347-A-G
gnomAD v3: 6-8525114-A-G
gnomAD v4: 6-8525114-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.8525114A>G , CM000668.2:g.8525114A>G GRCh38
NC_000006.11:g.8525347A>G , CM000668.1:g.8525347A>G GRCh37
NC_000006.10:g.8470346A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_038979.1:n.626-33471A>G
NR_038980.1:n.649-33471A>G