Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16972034A= , CM000679.2:g.16972034A= | GRCh38 |
| NC_000017.10:g.16875348A= , CM000679.1:g.16875348A= | GRCh37 |
| NC_000017.9:g.16816073A= | NCBI36 |
| NG_007281.1:g.5055T= , LRG_120:g.5055T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261652.7:c.42T= MANE Select | ENSP00000261652.2:p.Arg14= | |
| ENST00000261652.6:c.42T= | ENSP00000261652.2:p.Arg14= | |
| ENST00000579315.5:c.42T= | ENSP00000464069.1:p.Arg14= | |
| ENST00000581616.2:n.45T= | ||
| ENST00000582931.5:n.84T= | ||
| ENST00000583789.1:c.42T= | ENSP00000462952.1:p.Arg14= | |
| ENST00000584950.5:c.42T= | ENSP00000463582.1:p.Arg14= | |
| NM_012452.2:c.42T= , LRG_120t1:c.42T= | NP_036584.1:p.Arg14= | |
| NM_012452.3:c.42T= MANE Select | NP_036584.1:p.Arg14= |