Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.93585375T>G , CM000667.2:g.93585375T>G | GRCh38 |
| NC_000005.9:g.92921081T>G , CM000667.1:g.92921081T>G | GRCh37 |
| NC_000005.8:g.92946837T>G | NCBI36 |
| NG_034119.1:g.7039T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615873.2:c.277T>G | ENSP00000481517.1:p.Leu93Val | |
| ENST00000327111.8:c.352T>G MANE Select | ENSP00000325819.3:p.Leu118Val | |
| ENST00000647447.1:c.199T>G | ENSP00000495740.1:p.Leu67Val | |
| ENST00000327111.7:c.352T>G | ENSP00000325819.3:p.Leu118Val | |
| ENST00000615873.1:c.277T>G | ENSP00000481517.1:p.Leu93Val | |
| NM_005654.5:c.352T>G | NP_005645.1:p.Leu118Val | |
| NM_005654.6:c.352T>G MANE Select | NP_005645.1:p.Leu118Val |