Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47582359T= , CM000673.2:g.47582359T= | GRCh38 |
| NC_000011.9:g.47603911T= , CM000673.1:g.47603911T= | GRCh37 |
| NC_000011.8:g.47560487T= | NCBI36 |
| NG_011946.1:g.8350T= | |
| NG_011946.2:g.8350T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263774.9:c.518T= MANE Select | ENSP00000263774.4:p.Met173= | |
| ENST00000531351.2:n.1713T= | ||
| ENST00000677462.1:n.2992T= | ||
| ENST00000678975.1:n.2775T= | ||
| ENST00000263774.8:c.518T= | ENSP00000263774.4:p.Met173= | |
| ENST00000524568.1:n.621T= | ||
| ENST00000525212.1:n.173T= | ||
| ENST00000525378.5:n.456T= | ||
| ENST00000527178.1:n.118T= | ||
| ENST00000533507.5:n.1412T= | ||
| NM_004551.2:c.518T= | NP_004542.1:p.Met173= | |
| NM_004551.3:c.518T= MANE Select | NP_004542.1:p.Met173= |