Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176119548T= , CM000664.2:g.176119548T= | GRCh38 |
| NC_000002.11:g.176984276T= , CM000664.1:g.176984276T= | GRCh37 |
| NC_000002.10:g.176692522T= | NCBI36 |
| NG_008133.2:g.12785T= , LRG_246:g.12785T= | |
| NG_009225.1:g.1864T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249501.5:c.*317T= MANE Select | ENSP00000249501.4:n.*317T= | |
| ENST00000249501.4:c.*317T= | ENSP00000249501.4:n.*317T= | |
| NM_002148.3:c.*317T= , LRG_246t1:c.*317T= | NP_002139.2:n.*317T= | |
| NM_002148.4:c.*317T= MANE Select | NP_002139.2:n.*317T= |