Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65868565A= , CM000673.2:g.65868565A= | GRCh38 |
| NC_000011.9:g.65636036A= , CM000673.1:g.65636036A= | GRCh37 |
| NC_000011.8:g.65392612A= | NCBI36 |
| NG_012304.2:g.9370T= | |
| NG_053116.1:g.13504A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307998.11:c.792T= MANE Select | ENSP00000309953.6:p.Arg264= | |
| ENST00000307998.10:c.792T= | ENSP00000309953.6:p.Arg264= | |
| ENST00000526628.5:n.1358T= | ||
| ENST00000527969.1:n.1477T= | ||
| ENST00000528176.5:c.792T= | ENSP00000434151.1:p.Arg264= | |
| ENST00000531005.5:n.1786T= | ||
| ENST00000531972.5:c.792T= | ENSP00000435295.1:p.Arg264= | |
| ENST00000532084.5:n.218T= | ||
| NM_016938.4:c.792T= | NP_058634.4:p.Arg264= | |
| NR_037718.1:n.1051T= | ||
| NM_016938.5:c.792T= MANE Select | NP_058634.4:p.Arg264= | |
| NR_037718.2:n.917T= |