Linked Data
ClinVar Variation Id:
1044680
ClinVar RCV Id:
RCV001348959
dbSNP Id:
rs2061321959
gnomAD v4:
22-17085197-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.17085197C>G , CM000684.2:g.17085197C>G | GRCh38 |
| NC_000022.10:g.17566087C>G , CM000684.1:g.17566087C>G | GRCh37 |
| NC_000022.9:g.15946087C>G | NCBI36 |
| NG_028257.1:g.5237C>G , LRG_355:g.5237C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000612619.2:c.106C>G | ENSP00000479970.1:p.Leu36Val | |
| ENST00000694948.1:n.204C>G | ||
| ENST00000694949.1:n.201C>G | ||
| ENST00000694950.1:c.186C>G | ||
| ENST00000319363.11:c.106C>G MANE Select | ENSP00000320936.6:p.Leu36Val | |
| ENST00000319363.10:c.106C>G | ENSP00000320936.6:p.Leu36Val | |
| ENST00000459971.1:n.141C>G | ||
| ENST00000477874.1:n.244C>G | ||
| ENST00000612619.1:c.106C>G | ENSP00000479970.1:p.Leu36Val | |
| NM_001289905.1:c.106C>G | NP_001276834.1:p.Leu36Val | |
| NM_014339.6:c.106C>G , LRG_355t1:c.106C>G | NP_055154.3:p.Leu36Val | |
| NM_014339.7:c.106C>G MANE Select | NP_055154.3:p.Leu36Val | |
| NM_001289905.2:c.106C>G | NP_001276834.1:p.Leu36Val |