Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218882180C>G , CM000664.2:g.218882180C>G | GRCh38 |
| NC_000002.11:g.219746902C>G , CM000664.1:g.219746902C>G | GRCh37 |
| NC_000002.10:g.219455146C>G | NCBI36 |
| NG_012179.1:g.6648C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258411.8:c.133C>G MANE Select | ENSP00000258411.3:p.Leu45Val | |
| ENST00000258411.7:c.133C>G | ENSP00000258411.3:p.Leu45Val | |
| ENST00000458582.1:c.20C>G | ||
| NM_025216.2:c.133C>G | NP_079492.2:p.Leu45Val | |
| XM_011511928.1:c.82C>G | XP_011510230.1:p.Leu28Val | |
| XM_011511929.1:c.37C>G | XP_011510231.1:p.Leu13Val | |
| XM_011511930.1:c.133C>G | XP_011510232.1:p.Leu45Val | |
| XM_011511929.2:c.37C>G | XP_011510231.1:p.Leu13Val | |
| NM_025216.3:c.133C>G MANE Select | NP_079492.2:p.Leu45Val |