Linked Data
ClinVar Variation Id:
2848997
ClinVar RCV Id:
RCV003640219
dbSNP Id:
rs60279874
gnomAD v4:
19-49861332-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49861332G>C , CM000681.2:g.49861332G>C | GRCh38 |
| NC_000019.9:g.50364589G>C , CM000681.1:g.50364589G>C | GRCh37 |
| NC_000019.8:g.55056401G>C | NCBI36 |
| NG_027717.1:g.11234C>G | |
| NG_050666.1:g.17489G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322344.8:c.1482C>G MANE Select | ENSP00000323511.2:p.Gly494= | |
| ENST00000636840.1:c.59+276C>G | ||
| ENST00000640501.1:c.84C>G | ||
| ENST00000322344.7:c.1482C>G | ENSP00000323511.2:p.Gly494= | |
| ENST00000593946.5:c.*1409C>G | ENSP00000468896.1:n.*1409C>G | |
| ENST00000594661.5:n.1983C>G | ||
| ENST00000595081.5:n.385C>G | ||
| ENST00000596014.5:c.1482C>G | ENSP00000472300.1:p.Gly494= | |
| ENST00000597965.2:c.272C>G | ENSP00000471097.2:n.272C>G | |
| ENST00000599454.5:n.402C>G | ||
| ENST00000600573.5:c.1389C>G | ENSP00000469826.1:p.Gly463= | |
| ENST00000600910.5:c.*4C>G | ENSP00000473137.1:n.*4C>G | |
| ENST00000601816.3:n.554C>G | ||
| ENST00000625216.2:c.563C>G | ENSP00000486898.1:n.563C>G | |
| ENST00000627232.2:c.1402C>G | ENSP00000486037.1:n.1402C>G | |
| ENST00000631020.2:c.1374C>G | ENSP00000486707.1:p.Gly458= | |
| NM_007254.3:c.1482C>G | NP_009185.2:p.Gly494= | |
| NM_007254.4:c.1482C>G MANE Select | NP_009185.2:p.Gly494= |