Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47373967T= , CM000664.2:g.47373967T= | GRCh38 |
| NC_000002.11:g.47601106T= , CM000664.1:g.47601106T= | GRCh37 |
| NC_000002.10:g.47454610T= | NCBI36 |
| NG_012352.2:g.33805T= , LRG_215:g.33805T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263735.9:c.344T= MANE Select | ENSP00000263735.4:p.Met115= | |
| ENST00000263735.8:c.344T= | ENSP00000263735.4:p.Met115= | |
| ENST00000405271.5:c.428T= | ENSP00000385476.1:p.Met143= | |
| ENST00000419334.1:c.572T= | ENSP00000389028.1:p.Met191= | |
| ENST00000456133.5:c.428T= | ENSP00000410675.1:p.Met143= | |
| ENST00000474691.1:n.612T= | ||
| ENST00000490733.1:n.193T= | ||
| NM_002354.2:c.344T= , LRG_215t1:c.344T= | NP_002345.2:p.Met115= | |
| NM_002354.3:c.344T= MANE Select | NP_002345.2:p.Met115= |