Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34370639T= , CM000683.2:g.34370639T= | GRCh38 |
| NC_000021.8:g.35742938T= , CM000683.1:g.35742938T= | GRCh37 |
| NC_000021.7:g.34664808T= | NCBI36 |
| NG_008804.1:g.11616T= , LRG_291:g.11616T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290310.4:c.161T= MANE Select | ENSP00000290310.2:p.Met54= | |
| ENST00000290310.3:c.161T= | ENSP00000290310.2:p.Met54= | |
| NM_172201.1:c.161T= , LRG_291t1:c.161T= | NP_751951.1:p.Met54= | |
| XR_937683.1:n.682A= | ||
| XR_937684.1:n.682A= | ||
| XR_001755012.2:n.803A= | ||
| XR_001755013.2:n.682A= | ||
| XR_937683.2:n.682A= | ||
| NM_172201.2:c.161T= MANE Select | NP_751951.1:p.Met54= |