Canonical Allele Identifier: CA278173669
Gene:

Linked Data

dbSNP Id: rs17550532
gnomAD v2: 16-9744095-A-G
gnomAD v3: 16-9650238-A-G
gnomAD v4: 16-9650238-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9650238A>G , CM000678.2:g.9650238A>G GRCh38
NC_000016.9:g.9744095A>G , CM000678.1:g.9744095A>G GRCh37
NC_000016.8:g.9651596A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_429665.2:n.1066-5213A>G
XR_001752073.1:n.1767-5213A>G
XR_001752074.1:n.651-5213A>G
XR_001752075.1:n.741-5213A>G