Linked Data
ClinVar Variation Id:
653942
dbSNP Id:
rs200611702
gnomAD v2:
19-50364891-G-C
gnomAD v3:
19-49861634-G-C
gnomAD v4:
19-49861634-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49861634G>C , CM000681.2:g.49861634G>C | GRCh38 |
| NC_000019.9:g.50364891G>C , CM000681.1:g.50364891G>C | GRCh37 |
| NC_000019.8:g.55056703G>C | NCBI36 |
| NG_027717.1:g.10932C>G | |
| NG_050666.1:g.17791G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322344.8:c.1360C>G MANE Select | ENSP00000323511.2:p.Leu454Val | |
| ENST00000636840.1:c.33C>G | ||
| ENST00000322344.7:c.1360C>G | ENSP00000323511.2:p.Leu454Val | |
| ENST00000593946.5:c.*1287C>G | ENSP00000468896.1:n.*1287C>G | |
| ENST00000594661.5:n.1861C>G | ||
| ENST00000595081.5:n.263C>G | ||
| ENST00000596014.5:c.1360C>G | ENSP00000472300.1:p.Leu454Val | |
| ENST00000597965.2:c.67C>G | ENSP00000471097.2:p.Leu23Val | |
| ENST00000599454.5:n.280C>G | ||
| ENST00000600573.5:c.1267C>G | ENSP00000469826.1:p.Leu423Val | |
| ENST00000600910.5:c.1250C>G | ENSP00000473137.1:p.Ser417Cys | |
| ENST00000601816.3:n.335C>G | ||
| ENST00000625216.2:c.441C>G | ENSP00000486898.1:n.441C>G | |
| ENST00000627232.2:c.1280C>G | ENSP00000486037.1:n.1280C>G | |
| ENST00000631020.2:c.1252C>G | ENSP00000486707.1:p.Leu418Val | |
| NM_007254.3:c.1360C>G | NP_009185.2:p.Leu454Val | |
| NM_007254.4:c.1360C>G MANE Select | NP_009185.2:p.Leu454Val |