Linked Data
ClinVar Variation Id:
588118
ClinVar RCV Id:
RCV002316038
dbSNP Id:
rs1403782189
gnomAD v2:
2-145147351-G-A
gnomAD v4:
2-144389784-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.144389784G>A , CM000664.2:g.144389784G>A | GRCh38 |
| NC_000002.11:g.145147351G>A , CM000664.1:g.145147351G>A | GRCh37 |
| NC_000002.10:g.144863821G>A | NCBI36 |
| NG_016431.1:g.135608C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689298.1:c.*3161C>T | ENSP00000508434.1:n.*3161C>T | |
| ENST00000440875.6:c.2535C>T | ENSP00000475553.3:p.Thr845= | |
| ENST00000627532.3:c.3312C>T MANE Select | ENSP00000487174.1:p.Thr1104= | |
| ENST00000636026.2:c.3231-31C>T | ENSP00000490776.1:n.3231-31C>T | |
| ENST00000636179.1:n.3281C>T | ||
| ENST00000636413.1:c.2976C>T | ENSP00000490508.1:p.Thr992= | |
| ENST00000636471.1:c.3387C>T | ENSP00000490317.1:p.Thr1129= | |
| ENST00000636732.2:c.*3029C>T | ENSP00000490175.1:n.*3029C>T | |
| ENST00000636820.1:n.3412C>T | ||
| ENST00000637045.1:c.2976C>T | ENSP00000490141.1:p.Thr992= | |
| ENST00000637304.1:c.2976C>T | ENSP00000490872.1:p.Thr992= | |
| ENST00000638007.1:c.2976C>T | ENSP00000490723.1:p.Thr992= | |
| ENST00000638087.1:c.2976C>T | ENSP00000490673.1:p.Thr992= | |
| ENST00000638128.1:c.2535C>T | ENSP00000490934.1:p.Thr845= | |
| ENST00000639389.1:c.151+6628C>T | ENSP00000492572.1:n.151+6628C>T | |
| ENST00000647488.1:c.532C>T | ENSP00000494820.1:n.532C>T | |
| ENST00000675069.1:c.843C>T | ENSP00000502467.1:p.Thr281= | |
| ENST00000303660.8:c.3309C>T | ENSP00000302501.4:p.Thr1103= | |
| ENST00000409487.7:c.3312C>T | ENSP00000386854.2:p.Thr1104= | |
| ENST00000419938.5:c.656-902C>T | ENSP00000394777.2:n.656-902C>T | |
| ENST00000539609.7:c.3240C>T | ENSP00000443792.2:p.Thr1080= | |
| ENST00000558170.6:c.3312C>T | ENSP00000454157.1:p.Thr1104= | |
| ENST00000627532.2:c.3312C>T | ENSP00000487174.1:p.Thr1104= | |
| NM_001171653.1:c.3240C>T | NP_001165124.1:p.Thr1080= | |
| NM_014795.3:c.3312C>T | NP_055610.1:p.Thr1104= | |
| XM_006712881.2:c.3312C>T | XP_006712944.1:p.Thr1104= | |
| XM_006712882.2:c.3312C>T | XP_006712945.1:p.Thr1104= | |
| XM_011512231.1:c.3303C>T | XP_011510533.1:p.Thr1101= | |
| XM_011512232.1:c.3291C>T | XP_011510534.1:p.Thr1097= | |
| NM_014795.4:c.3312C>T MANE Select | NP_055610.1:p.Thr1104= | |
| NM_001171653.2:c.3240C>T | NP_001165124.1:p.Thr1080= |