Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193251766C= , CM000663.2:g.193251766C= | GRCh38 |
| NC_000001.10:g.193220896C= , CM000663.1:g.193220896C= | GRCh37 |
| NC_000001.9:g.191487519C= | NCBI36 |
| NG_012691.1:g.134809C= , LRG_507:g.134809C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.*1054C= MANE Select | ENSP00000356405.4:n.*1054C= | |
| ENST00000635846.1:c.*1054C= | ENSP00000490035.1:n.*1054C= | |
| ENST00000643006.1:c.*1560C= | ENSP00000496633.1:n.*1560C= | |
| ENST00000367435.3:c.*1054C= | ENSP00000356405.3:n.*1054C= | |
| NM_024529.4:c.*1054C= , LRG_507t1:c.*1054C= | NP_078805.3:n.*1054C= | |
| NM_024529.5:c.*1054C= MANE Select | NP_078805.3:n.*1054C= |