Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.16145081C>G , CM000668.2:g.16145081C>G | GRCh38 |
| NC_000006.11:g.16145312C>G , CM000668.1:g.16145312C>G | GRCh37 |
| NC_000006.10:g.16253291C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356840.8:c.1012C>G MANE Select | ENSP00000349298.3:p.Leu338Val | |
| ENST00000349606.4:c.469C>G | ENSP00000008686.5:p.Leu157Val | |
| ENST00000356840.7:c.1012C>G | ENSP00000349298.3:p.Leu338Val | |
| NM_013262.3:c.1012C>G | NP_037394.2:p.Leu338Val | |
| XM_005249032.2:c.847C>G | XP_005249089.1:p.Leu283Val | |
| XM_005249033.2:c.469C>G | XP_005249090.1:p.Leu157Val | |
| XM_005249033.3:c.469C>G | XP_005249090.1:p.Leu157Val | |
| XM_017010789.1:c.1012C>G | XP_016866278.1:p.Leu338Val | |
| NM_013262.4:c.1012C>G MANE Select | NP_037394.2:p.Leu338Val |