Canonical Allele Identifier:
CA220194063
Gene:
Linked Data
dbSNP Id:
rs10767873
gnomAD v2:
11-30768678-C-T
gnomAD v3:
11-30747131-C-T
gnomAD v4:
11-30747131-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.30747131C>T , CM000673.2:g.30747131C>T | GRCh38 |
| NC_000011.9:g.30768678C>T , CM000673.1:g.30768678C>T | GRCh37 |
| NC_000011.8:g.30725254C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_242862.2:n.166+5545C>T | ||
| XR_001748483.1:n.1129+5545C>T | ||
| XR_242862.4:n.1129+5545C>T |