Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146339813T= , CM000667.2:g.146339813T= | GRCh38 |
| NC_000005.9:g.145719376T= , CM000667.1:g.145719376T= | GRCh37 |
| NC_000005.8:g.145699569T= | NCBI36 |
| NG_011885.1:g.5790T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646991.2:c.386T= MANE Select | ENSP00000495718.1:p.Val129= | |
| ENST00000230732.4:c.386T= | ENSP00000230732.4:p.Val129= | |
| NM_002700.2:c.386T= | NP_002691.1:p.Val129= | |
| NM_002700.3:c.386T= MANE Select | NP_002691.1:p.Val129= |