Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.14727G= , CM000663.2:g.14727G= | GRCh38 |
| NC_000001.9:g.4590G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488147.2:n.1349C= | ||
| ENST00000488147.1:n.1254-226C= | ||
| NR_024540.1:n.1404C= |
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.14727G= , CM000663.2:g.14727G= | GRCh38 |
| NC_000001.9:g.4590G= | NCBI36 |
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488147.2:n.1349C= | ||
| ENST00000488147.1:n.1254-226C= | ||
| NR_024540.1:n.1404C= |