Canonical Allele Identifier:
CA820309059
Gene:
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.14596134A>T , CM000668.2:g.14596134A>T | GRCh38 |
| NC_000006.11:g.14596365A>T , CM000668.1:g.14596365A>T | GRCh37 |
| NC_000006.10:g.14704344A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001743989.1:n.270+1380T>A | ||
| XR_001743990.1:n.270+1380T>A | ||
| XR_001743991.1:n.270+1380T>A | ||
| XR_001743992.1:n.703+1380T>A | ||
| XR_001743993.1:n.270+1380T>A | ||
| XR_241980.3:n.565+1380T>A | ||
| XR_926516.2:n.270+1380T>A |