Linked Data
ClinVar Variation Id:
283691
dbSNP Id:
rs151090625
ExAC:
15:42691747 G / A
gnomAD v2:
15-42691747-G-A
gnomAD v3:
15-42399549-G-A
gnomAD v4:
15-42399549-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42399549G>A , CM000677.2:g.42399549G>A | GRCh38 |
| NC_000015.9:g.42691747G>A , CM000677.1:g.42691747G>A | GRCh37 |
| NC_000015.8:g.40479039G>A | NCBI36 |
| NG_008660.1:g.56447G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349748.8:c.1107G>A | ENSP00000183936.4:p.Thr369= | |
| ENST00000357568.8:c.1251G>A | ENSP00000350181.3:p.Thr417= | |
| ENST00000397163.8:c.1251G>A MANE Select | ENSP00000380349.3:p.Thr417= | |
| ENST00000466369.5:n.1760G>A | ||
| ENST00000483208.5:n.1482G>A | ||
| ENST00000495723.1:n.1482G>A | ||
| ENST00000549793.5:n.1482G>A | ||
| ENST00000638141.2:n.1122G>A | ||
| ENST00000673658.1:n.235G>A | ||
| ENST00000673705.1:c.206G>A | ENSP00000501021.1:p.Arg69Gln | |
| ENST00000318023.11:c.1107G>A | ENSP00000326281.8:p.Thr369= | |
| ENST00000349748.7:c.1107G>A | ENSP00000183936.4:p.Thr369= | |
| ENST00000357568.7:c.1251G>A | ENSP00000350181.3:p.Thr417= | |
| ENST00000397163.7:c.1251G>A | ENSP00000380349.3:p.Thr417= | |
| NM_000070.2:c.1251G>A | NP_000061.1:p.Thr417= | |
| NM_024344.1:c.1251G>A | NP_077320.1:p.Thr417= | |
| NM_173087.1:c.1107G>A | NP_775110.1:p.Thr369= | |
| NM_000070.3:c.1251G>A MANE Select | NP_000061.1:p.Thr417= | |
| NM_024344.2:c.1251G>A | NP_077320.1:p.Thr417= | |
| NM_173087.2:c.1107G>A | NP_775110.1:p.Thr369= |