Canonical Allele Identifier: CA725881014
Gene:

Linked Data

dbSNP Id: rs1189664171
gnomAD v3: 16-9581321-G-A
gnomAD v4: 16-9581321-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9581321G>A , CM000678.2:g.9581321G>A GRCh38
NC_000016.9:g.9675178G>A , CM000678.1:g.9675178G>A GRCh37
NC_000016.8:g.9582679G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_429665.2:n.1065+14731G>A
XR_001752073.1:n.1766+14731G>A
XR_001752074.1:n.650+14731G>A
XR_001752075.1:n.740+14731G>A