Linked Data
ClinVar Variation Id:
14994
dbSNP Id:
rs104894225
ExAC:
11:5275610 A / G
gnomAD v2:
11-5275610-A-G
gnomAD v3:
11-5254380-A-G
gnomAD v4:
11-5254380-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5254380A>G , CM000673.2:g.5254380A>G | GRCh38 |
| NC_000011.9:g.5275610A>G , CM000673.1:g.5275610A>G | GRCh37 |
| NC_000011.8:g.5232186A>G | NCBI36 |
| NG_000007.3:g.43236T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000336906.6:c.227T>C MANE Select | ENSP00000338082.4:p.Ile76Thr | |
| ENST00000380252.6:c.62T>C | ENSP00000369602.2:p.Ile21Thr | |
| ENST00000642908.1:c.227T>C | ENSP00000495346.1:p.Ile76Thr | |
| ENST00000647543.1:c.227T>C | ENSP00000496470.1:p.Ile76Thr | |
| ENST00000336906.4:c.227T>C | ENSP00000338082.4:p.Ile76Thr | |
| ENST00000380252.5:c.197T>C | ENSP00000369602.1:p.Ile66Thr | |
| ENST00000380259.6:c.227T>C | ENSP00000369609.2:p.Ile76Thr | |
| ENST00000444587.1:c.*96T>C | ENSP00000488218.1:n.*96T>C | |
| ENST00000620888.4:c.227T>C | ENSP00000479637.1:p.Ile76Thr | |
| ENST00000624109.1:c.128A>G | ENSP00000485458.1:p.Tyr43Cys | |
| NM_000184.2:c.227T>C | NP_000175.1:p.Ile76Thr | |
| NM_000184.3:c.227T>C MANE Select | NP_000175.1:p.Ile76Thr |