Linked Data
ClinVar Variation Id:
937941
ClinVar RCV Id:
RCV001207073
dbSNP Id:
rs376213146
ExAC:
19:50364711 G / C
gnomAD v2:
19-50364711-G-C
gnomAD v3:
19-49861454-G-C
gnomAD v4:
19-49861454-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49861454G>C , CM000681.2:g.49861454G>C | GRCh38 |
| NC_000019.9:g.50364711G>C , CM000681.1:g.50364711G>C | GRCh37 |
| NC_000019.8:g.55056523G>C | NCBI36 |
| NG_027717.1:g.11112C>G | |
| NG_050666.1:g.17611G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322344.8:c.1443C>G MANE Select | ENSP00000323511.2:p.Gly481= | |
| ENST00000636840.1:c.59+154C>G | ||
| ENST00000640501.1:c.49C>G | ||
| ENST00000322344.7:c.1443C>G | ENSP00000323511.2:p.Gly481= | |
| ENST00000593946.5:c.*1370C>G | ENSP00000468896.1:n.*1370C>G | |
| ENST00000594661.5:n.1944C>G | ||
| ENST00000595081.5:n.346C>G | ||
| ENST00000596014.5:c.1443C>G | ENSP00000472300.1:p.Gly481= | |
| ENST00000597965.2:c.150C>G | ENSP00000471097.2:p.Gly50= | |
| ENST00000599454.5:n.363C>G | ||
| ENST00000600573.5:c.1350C>G | ENSP00000469826.1:p.Gly450= | |
| ENST00000600910.5:c.1333C>G | ENSP00000473137.1:p.Leu445Val | |
| ENST00000601816.3:n.515C>G | ||
| ENST00000625216.2:c.524C>G | ENSP00000486898.1:n.524C>G | |
| ENST00000627232.2:c.1363C>G | ENSP00000486037.1:n.1363C>G | |
| ENST00000631020.2:c.1335C>G | ENSP00000486707.1:p.Gly445= | |
| NM_007254.3:c.1443C>G | NP_009185.2:p.Gly481= | |
| NM_007254.4:c.1443C>G MANE Select | NP_009185.2:p.Gly481= |