Linked Data
ClinVar Variation Id:
1578963
ClinVar RCV Id:
RCV002090880
dbSNP Id:
rs1353938069
gnomAD v3:
2-144404075-G-A
gnomAD v4:
2-144404075-G-A
COSMIC:
COSM353031
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.144404075G>A , CM000664.2:g.144404075G>A | GRCh38 |
| NC_000002.11:g.145161642G>A , CM000664.1:g.145161642G>A | GRCh37 |
| NC_000002.10:g.144878112G>A | NCBI36 |
| NG_016431.1:g.121317C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000689298.1:c.*497C>T | ENSP00000508434.1:n.*497C>T | |
| ENST00000440875.6:c.-130C>T | ENSP00000475553.3:n.-130C>T | |
| ENST00000627532.3:c.648C>T MANE Select | ENSP00000487174.1:p.Cys216= | |
| ENST00000636026.2:c.648C>T | ENSP00000490776.1:p.Cys216= | |
| ENST00000636179.1:n.617C>T | ||
| ENST00000636413.1:c.312C>T | ENSP00000490508.1:p.Cys104= | |
| ENST00000636471.1:c.648C>T | ENSP00000490317.1:p.Cys216= | |
| ENST00000636732.2:c.*365C>T | ENSP00000490175.1:n.*365C>T | |
| ENST00000636820.1:n.748C>T | ||
| ENST00000637045.1:c.312C>T | ENSP00000490141.1:p.Cys104= | |
| ENST00000637267.2:c.648C>T | ENSP00000490293.2:p.Cys216= | |
| ENST00000637304.1:c.312C>T | ENSP00000490872.1:p.Cys104= | |
| ENST00000638007.1:c.312C>T | ENSP00000490723.1:p.Cys104= | |
| ENST00000638087.1:c.312C>T | ENSP00000490673.1:p.Cys104= | |
| ENST00000638128.1:c.-130C>T | ENSP00000490934.1:n.-130C>T | |
| ENST00000675069.1:c.-133-5225C>T | ENSP00000502467.1:n.-133-5225C>T | |
| ENST00000303660.8:c.645C>T | ENSP00000302501.4:p.Cys215= | |
| ENST00000392861.6:c.732C>T | ENSP00000376601.3:p.Cys244= | |
| ENST00000409487.7:c.648C>T | ENSP00000386854.2:p.Cys216= | |
| ENST00000419938.5:c.387C>T | ENSP00000394777.2:p.Cys129= | |
| ENST00000427902.5:c.735C>T | ENSP00000395496.2:p.Cys245= | |
| ENST00000440875.5:c.633C>T | ENSP00000475553.2:p.Cys211= | |
| ENST00000497268.1:n.594C>T | ||
| ENST00000539609.7:c.576C>T | ENSP00000443792.2:p.Cys192= | |
| ENST00000558170.6:c.648C>T | ENSP00000454157.1:p.Cys216= | |
| ENST00000627532.2:c.648C>T | ENSP00000487174.1:p.Cys216= | |
| NM_001171653.1:c.576C>T | NP_001165124.1:p.Cys192= | |
| NM_014795.3:c.648C>T | NP_055610.1:p.Cys216= | |
| XM_006712881.2:c.648C>T | XP_006712944.1:p.Cys216= | |
| XM_006712882.2:c.648C>T | XP_006712945.1:p.Cys216= | |
| XM_011512231.1:c.639C>T | XP_011510533.1:p.Cys213= | |
| XM_011512232.1:c.627C>T | XP_011510534.1:p.Cys209= | |
| NM_014795.4:c.648C>T MANE Select | NP_055610.1:p.Cys216= | |
| NM_001171653.2:c.576C>T | NP_001165124.1:p.Cys192= |