Linked Data
ClinVar Variation Id:
2276048
ClinVar RCV Id:
RCV004126730
dbSNP Id:
rs1449263172
gnomAD v2:
6-10903118-C-T
gnomAD v4:
6-10902885-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10902885C>T , CM000668.2:g.10902885C>T | GRCh38 |
| NC_000006.11:g.10903118C>T , CM000668.1:g.10903118C>T | GRCh37 |
| NC_000006.10:g.11011104C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283141.11:c.563C>T MANE Select | ENSP00000283141.6:p.Thr188Ile | |
| ENST00000283141.10:c.563C>T | ENSP00000283141.6:p.Thr188Ile | |
| ENST00000341041.8:c.563C>T | ENSP00000340320.4:p.Thr188Ile | |
| ENST00000480294.1:c.*525C>T | ENSP00000417929.1:n.*525C>T | |
| ENST00000487561.2:c.224C>T | ENSP00000417870.1:p.Thr75Ile | |
| ENST00000543878.5:c.560C>T | ENSP00000440676.2:p.Thr187Ile | |
| NM_001040274.2:c.563C>T | NP_001035364.2:p.Thr188Ile | |
| NM_001040274.3:c.563C>T MANE Select | NP_001035364.2:p.Thr188Ile |