Linked Data
ClinVar Variation Id:
942530
ClinVar RCV Id:
RCV001212535
dbSNP Id:
rs2074756863
gnomAD v4:
19-49861457-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49861457A>C , CM000681.2:g.49861457A>C | GRCh38 |
| NC_000019.9:g.50364714A>C , CM000681.1:g.50364714A>C | GRCh37 |
| NC_000019.8:g.55056526A>C | NCBI36 |
| NG_027717.1:g.11109T>G | |
| NG_050666.1:g.17614A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322344.8:c.1440T>G MANE Select | ENSP00000323511.2:p.Tyr480Ter | |
| ENST00000636840.1:c.59+151T>G | ||
| ENST00000640501.1:c.46T>G | ||
| ENST00000322344.7:c.1440T>G | ENSP00000323511.2:p.Tyr480Ter | |
| ENST00000593946.5:c.*1367T>G | ENSP00000468896.1:n.*1367T>G | |
| ENST00000594661.5:n.1941T>G | ||
| ENST00000595081.5:n.343T>G | ||
| ENST00000596014.5:c.1440T>G | ENSP00000472300.1:p.Tyr480Ter | |
| ENST00000597965.2:c.147T>G | ENSP00000471097.2:p.Tyr49Ter | |
| ENST00000599454.5:n.360T>G | ||
| ENST00000600573.5:c.1347T>G | ENSP00000469826.1:p.Tyr449Ter | |
| ENST00000600910.5:c.1330T>G | ENSP00000473137.1:p.Trp444Gly | |
| ENST00000601816.3:n.512T>G | ||
| ENST00000625216.2:c.521T>G | ENSP00000486898.1:n.521T>G | |
| ENST00000627232.2:c.1360T>G | ENSP00000486037.1:n.1360T>G | |
| ENST00000631020.2:c.1332T>G | ENSP00000486707.1:p.Tyr444Ter | |
| NM_007254.3:c.1440T>G | NP_009185.2:p.Tyr480Ter | |
| NM_007254.4:c.1440T>G MANE Select | NP_009185.2:p.Tyr480Ter |