Linked Data
ClinVar Variation Id:
128441
dbSNP Id:
rs151221957
ExAC:
20:47634040 A / T
gnomAD v2:
20-47634040-A-T
gnomAD v3:
20-49017503-A-T
gnomAD v4:
20-49017503-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.49017503A>T , CM000682.2:g.49017503A>T | GRCh38 |
| NC_000020.10:g.47634040A>T , CM000682.1:g.47634040A>T | GRCh37 |
| NC_000020.9:g.47067447A>T | NCBI36 |
| NG_011490.1:g.100766A>T | |
| NG_011490.2:g.100766A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371917.5:c.4462A>T MANE Select | ENSP00000360985.4:p.Thr1488Ser | |
| ENST00000679436.1:c.4459A>T | ENSP00000504888.1:p.Thr1487Ser | |
| ENST00000679542.1:n.4155A>T | ||
| ENST00000680635.1:n.4019A>T | ||
| ENST00000680871.1:c.4310A>T | ENSP00000505042.1:n.4310A>T | |
| ENST00000681021.1:c.4462A>T | ENSP00000505972.1:p.Thr1488Ser | |
| ENST00000681119.1:n.1196A>T | ||
| ENST00000681399.1:c.*4139A>T | ENSP00000506363.1:n.*4139A>T | |
| ENST00000681656.1:c.4353A>T | ENSP00000505638.1:n.4353A>T | |
| ENST00000681885.1:c.4462A>T | ENSP00000505737.1:p.Thr1488Ser | |
| ENST00000371917.4:c.4462A>T | ENSP00000360985.4:p.Thr1488Ser | |
| NM_006420.2:c.4462A>T | NP_006411.2:p.Thr1488Ser | |
| XM_005260252.2:c.4459A>T | XP_005260309.1:p.Thr1487Ser | |
| XM_005260252.3:c.4459A>T | XP_005260309.1:p.Thr1487Ser | |
| NM_006420.3:c.4462A>T MANE Select | NP_006411.2:p.Thr1488Ser |