Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94031114G>C , CM000663.2:g.94031114G>C | GRCh38 |
| NC_000001.10:g.94496670G>C , CM000663.1:g.94496670G>C | GRCh37 |
| NC_000001.9:g.94269258G>C | NCBI36 |
| NG_009073.1:g.95036C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4135C>G MANE Select | ENSP00000359245.3:p.Leu1379Val | |
| ENST00000370225.3:c.4135C>G | ENSP00000359245.3:p.Leu1379Val | |
| ENST00000536513.5:c.511C>G | ENSP00000439707.2:p.Leu171Val | |
| NM_000350.2:c.4135C>G | NP_000341.2:p.Leu1379Val | |
| NM_000350.3:c.4135C>G MANE Select | NP_000341.2:p.Leu1379Val |