Linked Data
ClinVar Variation Id:
468824
dbSNP Id:
rs142233726
ExAC:
10:75842215 A / T
gnomAD v2:
10-75842215-A-T
gnomAD v3:
10-74082457-A-T
gnomAD v4:
10-74082457-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.74082457A>T , CM000672.2:g.74082457A>T | GRCh38 |
| NC_000010.10:g.75842215A>T , CM000672.1:g.75842215A>T | GRCh37 |
| NC_000010.9:g.75512221A>T | NCBI36 |
| NG_008868.1:g.89344A>T , LRG_383:g.89344A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000211998.10:c.787A>T MANE Select | ENSP00000211998.5:p.Thr263Ser | |
| ENST00000211998.8:c.787A>T | ENSP00000211998.4:p.Thr263Ser | |
| ENST00000372755.7:c.787A>T | ENSP00000361841.3:p.Thr263Ser | |
| ENST00000478896.2:n.332-18597A>T | ||
| ENST00000623461.3:n.3590A>T | ||
| ENST00000624354.3:c.*542A>T | ENSP00000485551.1:n.*542A>T | |
| NM_003373.3:c.787A>T | NP_003364.1:p.Thr263Ser | |
| NM_014000.2:c.787A>T , LRG_383t1:c.787A>T | NP_054706.1:p.Thr263Ser | |
| XM_005270142.1:c.790A>T | XP_005270199.1:p.Thr264Ser | |
| XM_005270143.1:c.790A>T | XP_005270200.1:p.Thr264Ser | |
| XR_001747501.1:n.90-4730T>A | ||
| NM_003373.4:c.787A>T | NP_003364.1:p.Thr263Ser | |
| NM_014000.3:c.787A>T MANE Select | NP_054706.1:p.Thr263Ser |