Canonical Allele Identifier: CA725798428
Gene:

Linked Data

dbSNP Id: rs1222533451
gnomAD v3: 16-9249459-C-T
gnomAD v4: 16-9249459-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9249459C>T , CM000678.2:g.9249459C>T GRCh38
NC_000016.9:g.9343316C>T , CM000678.1:g.9343316C>T GRCh37
NC_000016.8:g.9250817C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933054.1:n.70+64726C>T