Canonical Allele Identifier: CA725798569
Gene:

Linked Data

dbSNP Id: rs1316795132
gnomAD v3: 16-9249707-C-T
gnomAD v4: 16-9249707-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9249707C>T , CM000678.2:g.9249707C>T GRCh38
NC_000016.9:g.9343564C>T , CM000678.1:g.9343564C>T GRCh37
NC_000016.8:g.9251065C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933054.1:n.70+64974C>T