Linked Data
dbSNP Id:
rs948093354
gnomAD v2:
2-145147405-C-T
gnomAD v3:
2-144389838-C-T
gnomAD v4:
2-144389838-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.144389838C>T , CM000664.2:g.144389838C>T | GRCh38 |
| NC_000002.11:g.145147405C>T , CM000664.1:g.145147405C>T | GRCh37 |
| NC_000002.10:g.144863875C>T | NCBI36 |
| NG_016431.1:g.135554G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689298.1:c.*3107G>A | ENSP00000508434.1:n.*3107G>A | |
| ENST00000440875.6:c.2481G>A | ENSP00000475553.3:p.Glu827= | |
| ENST00000627532.3:c.3258G>A MANE Select | ENSP00000487174.1:p.Glu1086= | |
| ENST00000636026.2:c.3230+28G>A | ENSP00000490776.1:n.3230+28G>A | |
| ENST00000636179.1:n.3227G>A | ||
| ENST00000636413.1:c.2922G>A | ENSP00000490508.1:p.Glu974= | |
| ENST00000636471.1:c.3333G>A | ENSP00000490317.1:p.Glu1111= | |
| ENST00000636732.2:c.*2975G>A | ENSP00000490175.1:n.*2975G>A | |
| ENST00000636820.1:n.3358G>A | ||
| ENST00000637045.1:c.2922G>A | ENSP00000490141.1:p.Glu974= | |
| ENST00000637304.1:c.2922G>A | ENSP00000490872.1:p.Glu974= | |
| ENST00000638007.1:c.2922G>A | ENSP00000490723.1:p.Glu974= | |
| ENST00000638087.1:c.2922G>A | ENSP00000490673.1:p.Glu974= | |
| ENST00000638128.1:c.2481G>A | ENSP00000490934.1:p.Glu827= | |
| ENST00000639389.1:c.151+6574G>A | ENSP00000492572.1:n.151+6574G>A | |
| ENST00000647488.1:c.478G>A | ENSP00000494820.1:n.478G>A | |
| ENST00000675069.1:c.789G>A | ENSP00000502467.1:p.Glu263= | |
| ENST00000303660.8:c.3255G>A | ENSP00000302501.4:p.Glu1085= | |
| ENST00000409487.7:c.3258G>A | ENSP00000386854.2:p.Glu1086= | |
| ENST00000419938.5:c.656-956G>A | ENSP00000394777.2:n.656-956G>A | |
| ENST00000539609.7:c.3186G>A | ENSP00000443792.2:p.Glu1062= | |
| ENST00000558170.6:c.3258G>A | ENSP00000454157.1:p.Glu1086= | |
| ENST00000627532.2:c.3258G>A | ENSP00000487174.1:p.Glu1086= | |
| NM_001171653.1:c.3186G>A | NP_001165124.1:p.Glu1062= | |
| NM_014795.3:c.3258G>A | NP_055610.1:p.Glu1086= | |
| XM_006712881.2:c.3258G>A | XP_006712944.1:p.Glu1086= | |
| XM_006712882.2:c.3258G>A | XP_006712945.1:p.Glu1086= | |
| XM_011512231.1:c.3249G>A | XP_011510533.1:p.Glu1083= | |
| XM_011512232.1:c.3237G>A | XP_011510534.1:p.Glu1079= | |
| NM_014795.4:c.3258G>A MANE Select | NP_055610.1:p.Glu1086= | |
| NM_001171653.2:c.3186G>A | NP_001165124.1:p.Glu1062= |