Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107696026C>G , CM000669.2:g.107696026C>G | GRCh38 |
| NC_000007.13:g.107336471C>G , CM000669.1:g.107336471C>G | GRCh37 |
| NC_000007.12:g.107123707C>G | NCBI36 |
| NG_008489.1:g.40392C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.1531C>G MANE Select | ENSP00000494017.1:p.Leu511Val | |
| ENST00000644846.1:c.242C>G | ||
| ENST00000265715.7:c.1531C>G | ENSP00000265715.3:p.Leu511Val | |
| ENST00000477350.5:n.378C>G | ||
| ENST00000480841.5:n.380C>G | ||
| ENST00000497446.5:n.546C>G | ||
| NM_000441.1:c.1531C>G | NP_000432.1:p.Leu511Val | |
| XM_005250425.1:c.1531C>G | XP_005250482.1:p.Leu511Val | |
| XM_005250425.2:c.1531C>G | XP_005250482.1:p.Leu511Val | |
| XM_017012318.1:c.1453C>G | XP_016867807.1:p.Leu485Val | |
| NM_000441.2:c.1531C>G MANE Select | NP_000432.1:p.Leu511Val |