Linked Data
ClinVar Variation Id:
2481
dbSNP Id:
rs80338932
ExAC:
5:148406466 A / C
gnomAD v2:
5-148406466-A-C
gnomAD v3:
5-149026903-A-C
gnomAD v4:
5-149026903-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149026903A>C , CM000667.2:g.149026903A>C | GRCh38 |
| NC_000005.9:g.148406466A>C , CM000667.1:g.148406466A>C | GRCh37 |
| NC_000005.8:g.148386659A>C | NCBI36 |
| NG_007947.2:g.41272T>G , LRG_269:g.41272T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000502274.2:c.2725T>G | ||
| ENST00000515425.6:c.2829T>G MANE Select | ENSP00000423660.1:p.Tyr943Ter | |
| ENST00000675793.1:c.*2113T>G | ENSP00000502039.1:n.*2113T>G | |
| ENST00000676056.1:c.*2339T>G | ENSP00000501827.1:n.*2339T>G | |
| ENST00000323829.9:c.*2217T>G | ENSP00000313025.5:n.*2217T>G | |
| ENST00000504517.5:c.2359T>G | ENSP00000421779.1:n.2359T>G | |
| ENST00000504690.5:c.2829T>G | ENSP00000425627.1:p.Tyr943Ter | |
| ENST00000510779.1:c.1879T>G | ||
| ENST00000511307.5:c.*2609T>G | ENSP00000421420.1:n.*2609T>G | |
| ENST00000512049.5:c.2808T>G | ENSP00000421860.1:p.Tyr936Ter | |
| ENST00000513604.5:c.*2217T>G | ENSP00000423111.1:n.*2217T>G | |
| ENST00000515425.5:c.2829T>G | ENSP00000423660.1:p.Tyr943Ter | |
| NM_024577.3:c.2829T>G , LRG_269t1:c.2829T>G | NP_078853.2:p.Tyr943Ter | |
| NM_024577.4:c.2829T>G MANE Select | NP_078853.2:p.Tyr943Ter |