Linked Data
ClinVar Variation Id:
420484
dbSNP Id:
rs752355994
ExAC:
1:154542755 A / T
gnomAD v2:
1-154542755-A-T
gnomAD v3:
1-154570279-A-T
gnomAD v4:
1-154570279-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154570279A>T , CM000663.2:g.154570279A>T | GRCh38 |
| NC_000001.10:g.154542755A>T , CM000663.1:g.154542755A>T | GRCh37 |
| NC_000001.9:g.152809379A>T | NCBI36 |
| NG_008027.1:g.7499A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.277A>T MANE Select | ENSP00000357461.3:p.Thr93Ser | |
| ENST00000636034.1:c.277A>T | ENSP00000489703.1:p.Thr93Ser | |
| ENST00000637900.1:c.283A>T | ENSP00000490474.1:p.Thr95Ser | |
| ENST00000368476.3:c.277A>T | ENSP00000357461.3:p.Thr93Ser | |
| NM_000748.2:c.277A>T | NP_000739.1:p.Thr93Ser | |
| XM_017000180.2:c.-98A>T | XP_016855669.1:n.-98A>T | |
| XR_001736952.2:n.529A>T | ||
| NM_000748.3:c.277A>T MANE Select | NP_000739.1:p.Thr93Ser |