Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100539904T= , CM000663.2:g.100539904T= | GRCh38 |
| NC_000001.10:g.101005460T= , CM000663.1:g.101005460T= | GRCh37 |
| NC_000001.9:g.100778048T= | NCBI36 |
| NG_053134.1:g.6733T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315033.5:c.938T= MANE Select | ENSP00000314223.4:p.Val313= | |
| ENST00000315033.4:c.938T= | ENSP00000314223.4:p.Val313= | |
| NM_022049.2:c.938T= | NP_071332.2:p.Val313= | |
| NM_022049.3:c.938T= MANE Select | NP_071332.2:p.Val313= |