Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50185578A= , CM000679.2:g.50185578A= | GRCh38 |
| NC_000017.10:g.48262939A= , CM000679.1:g.48262939A= | GRCh37 |
| NC_000017.9:g.45617938A= | NCBI36 |
| NG_007400.1:g.21062T= , LRG_1:g.21062T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.4319T= MANE Select | ENSP00000225964.6:p.Ile1440= | |
| ENST00000225964.9:c.4319T= | ENSP00000225964.5:p.Ile1440= | |
| NM_000088.3:c.4319T= , LRG_1t1:c.4319T= | NP_000079.2:p.Ile1440= | |
| XM_005257058.3:c.4049T= | XP_005257115.2:p.Ile1350= | |
| XM_005257059.3:c.3401T= | XP_005257116.2:p.Ile1134= | |
| XM_011524341.1:c.4121T= | XP_011522643.1:p.Ile1374= | |
| XM_005257058.4:c.4049T= | XP_005257115.2:p.Ile1350= | |
| XM_005257059.4:c.3401T= | XP_005257116.2:p.Ile1134= | |
| NM_000088.4:c.4319T= MANE Select | NP_000079.2:p.Ile1440= |