Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119413868C>G , CM000665.2:g.119413868C>G | GRCh38 |
| NC_000003.11:g.119132715C>G , CM000665.1:g.119132715C>G | GRCh37 |
| NC_000003.10:g.120615405C>G | NCBI36 |
| NG_007665.2:g.124496C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.1939C>G MANE Select | ENSP00000264245.4:p.Leu647Val | |
| ENST00000264245.8:c.1939C>G | ENSP00000264245.4:p.Leu647Val | |
| NM_020754.3:c.1939C>G | NP_065805.2:p.Leu647Val | |
| XM_005247671.3:c.1846C>G | XP_005247728.1:p.Leu616Val | |
| XM_006713714.2:c.1879C>G | XP_006713777.1:p.Leu627Val | |
| XM_006713714.3:c.1879C>G | XP_006713777.1:p.Leu627Val | |
| XM_017006955.1:c.1447C>G | XP_016862444.1:p.Leu483Val | |
| NM_020754.4:c.1939C>G MANE Select | NP_065805.2:p.Leu647Val |