Canonical Allele Identifier:
CA2226001564
Gene:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.60413266A>C , CM000678.2:g.60413266A>C | GRCh38 |
| NC_000016.9:g.60447170A>C , CM000678.1:g.60447170A>C | GRCh37 |
| NC_000016.8:g.59004671A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_243457.2:n.375+48171A>C | ||
| XR_933651.1:n.538+48171A>C | ||
| XR_933652.1:n.601+48171A>C | ||
| XR_933653.1:n.312+48171A>C | ||
| XR_001752229.1:n.538+48171A>C | ||
| XR_001752230.1:n.515+48171A>C | ||
| XR_001752231.1:n.312+48171A>C | ||
| XR_002957906.1:n.803+48171A>C |