Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55044023C>G , CM000663.2:g.55044023C>G | GRCh38 |
| NC_000001.10:g.55509696C>G , CM000663.1:g.55509696C>G | GRCh37 |
| NC_000001.9:g.55282284C>G | NCBI36 |
| NG_009061.1:g.9477C>G , LRG_275:g.9477C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.388C>G | ENSP00000501161.2:p.Leu130Val | |
| ENST00000710286.1:c.745C>G | ENSP00000518176.1:p.Leu249Val | |
| ENST00000673662.1:n.58C>G | ||
| ENST00000673726.1:c.388C>G | ENSP00000501004.1:p.Leu130Val | |
| ENST00000673903.1:c.13C>G | ENSP00000501257.1:p.Leu5Val | |
| ENST00000302118.5:c.388C>G MANE Select | ENSP00000303208.5:p.Leu130Val | |
| NM_174936.3:c.388C>G , LRG_275t1:c.388C>G | NP_777596.2:p.Leu130Val | |
| NR_110451.1:n.182+3620C>G | ||
| NM_174936.4:c.388C>G MANE Select | NP_777596.2:p.Leu130Val | |
| NR_110451.2:n.182+3620C>G |