Canonical Allele Identifier: CA725798590
Gene:

Linked Data

dbSNP Id: rs1337080090
gnomAD v3: 16-9249730-A-T
gnomAD v4: 16-9249730-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9249730A>T , CM000678.2:g.9249730A>T GRCh38
NC_000016.9:g.9343587A>T , CM000678.1:g.9343587A>T GRCh37
NC_000016.8:g.9251088A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933054.1:n.70+64997A>T