Linked Data
ClinVar Variation Id:
1899799
ClinVar RCV Id:
RCV002570901
dbSNP Id:
rs756920444
ExAC:
1:205027063 C / G
gnomAD v2:
1-205027063-C-G
gnomAD v4:
1-205057935-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.205057935C>G , CM000663.2:g.205057935C>G | GRCh38 |
| NC_000001.10:g.205027063C>G , CM000663.1:g.205027063C>G | GRCh37 |
| NC_000001.9:g.203293686C>G | NCBI36 |
| NG_033845.1:g.19724C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331830.7:c.85C>G MANE Select | ENSP00000330633.4:p.Leu29Val | |
| ENST00000532366.2:c.*672C>G | ENSP00000491665.1:n.*672C>G | |
| ENST00000636809.2:n.373C>G | ||
| ENST00000638378.1:c.85C>G | ENSP00000492617.1:p.Leu29Val | |
| ENST00000639302.1:c.85C>G | ENSP00000491671.1:p.Leu29Val | |
| ENST00000639971.1:c.85C>G | ENSP00000491959.1:p.Leu29Val | |
| ENST00000640326.1:c.85C>G | ENSP00000492495.1:p.Leu29Val | |
| ENST00000640352.1:c.*672C>G | ENSP00000491080.1:n.*672C>G | |
| ENST00000640428.1:c.85C>G | ENSP00000491474.1:p.Leu29Val | |
| ENST00000331830.4:c.85C>G | ENSP00000330633.4:p.Leu29Val | |
| ENST00000532366.1:n.198C>G | ||
| NM_005076.3:c.85C>G | NP_005067.1:p.Leu29Val | |
| XM_011509925.1:c.70C>G | XP_011508227.1:p.Leu24Val | |
| NM_001346083.1:c.85C>G | NP_001333012.1:p.Leu29Val | |
| NM_005076.4:c.85C>G | NP_005067.1:p.Leu29Val | |
| NR_144350.1:n.442C>G | ||
| XM_017002198.1:c.85C>G | XP_016857687.1:p.Leu29Val | |
| XM_017002199.2:c.70C>G | XP_016857688.1:p.Leu24Val | |
| XM_024449386.1:c.124C>G | XP_024305154.1:p.Leu42Val | |
| XM_024449387.1:c.-454C>G | XP_024305155.1:n.-454C>G | |
| XM_024449388.1:c.-454C>G | XP_024305156.1:n.-454C>G | |
| XM_024449389.1:c.124C>G | XP_024305157.1:p.Leu42Val | |
| NM_005076.5:c.85C>G MANE Select | NP_005067.1:p.Leu29Val | |
| NM_001346083.2:c.85C>G | NP_001333012.1:p.Leu29Val | |
| NR_144350.2:n.354C>G |