Canonical Allele Identifier: CA974496515
Gene:

Linked Data

dbSNP Id: rs1898215670
gnomAD v3: 16-9249541-T-A
gnomAD v4: 16-9249541-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9249541T>A , CM000678.2:g.9249541T>A GRCh38
NC_000016.9:g.9343398T>A , CM000678.1:g.9343398T>A GRCh37
NC_000016.8:g.9250899T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933054.1:n.70+64808T>A