Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193122006C= , CM000663.2:g.193122006C= | GRCh38 |
| NC_000001.10:g.193091136C= , CM000663.1:g.193091136C= | GRCh37 |
| NC_000001.9:g.191357759C= | NCBI36 |
| NG_012691.1:g.5049C= , LRG_507:g.5049C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643006.1:c.-195C= | ENSP00000496633.1:n.-195C= | |
| ENST00000649895.1:n.24C= | ||
| NM_024529.4:c.-195C= , LRG_507t1:c.-195C= | NP_078805.3:n.-195C= | |
| XR_001738350.1:n.1651G= |