Linked Data
ClinVar Variation Id:
45673
dbSNP Id:
rs201555289
ExAC:
9:117166240 G / A
gnomAD v2:
9-117166240-G-A
gnomAD v3:
9-114403960-G-A
gnomAD v4:
9-114403960-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114403960G>A , CM000671.2:g.114403960G>A | GRCh38 |
| NC_000009.11:g.117166240G>A , CM000671.1:g.117166240G>A | GRCh37 |
| NC_000009.10:g.116206061G>A | NCBI36 |
| NG_016700.1:g.106497C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699485.1:c.698C>T | ENSP00000514396.1:p.Thr233Ile | |
| ENST00000362057.4:c.2354C>T MANE Select | ENSP00000354623.3:p.Thr785Ile | |
| ENST00000674036.8:c.1327C>T | ||
| ENST00000674048.1:n.2235C>T | ||
| ENST00000265134.10:c.1205C>T | ENSP00000265134.6:p.Thr402Ile | |
| ENST00000362057.3:c.2354C>T | ENSP00000354623.3:p.Thr785Ile | |
| ENST00000374059.7:c.1301C>T | ENSP00000363172.3:p.Thr434Ile | |
| NM_001083885.2:c.1205C>T | NP_001077354.2:p.Thr402Ile | |
| NM_001173425.1:c.2351C>T | NP_001166896.1:p.Thr784Ile | |
| NM_015404.3:c.2354C>T | NP_056219.3:p.Thr785Ile | |
| XM_005251897.3:c.1691C>T | XP_005251954.2:p.Thr564Ile | |
| XM_011518484.1:c.2387C>T | XP_011516786.1:p.Thr796Ile | |
| XM_011518485.1:c.2387C>T | XP_011516787.1:p.Thr796Ile | |
| XM_011518486.1:c.2384C>T | XP_011516788.1:p.Thr795Ile | |
| XM_011518487.1:c.2261C>T | XP_011516789.1:p.Thr754Ile | |
| XM_011518488.1:c.2144C>T | XP_011516790.1:p.Thr715Ile | |
| XM_011518495.1:c.1064C>T | XP_011516797.1:p.Thr355Ile | |
| XR_929747.1:n.3291C>T | ||
| XR_929748.1:n.3189C>T | ||
| NM_001346890.1:c.1301C>T | NP_001333819.1:p.Thr434Ile | |
| XM_011518486.2:c.2384C>T | XP_011516788.1:p.Thr795Ile | |
| XM_011518487.2:c.2261C>T | XP_011516789.1:p.Thr754Ile | |
| XM_011518488.2:c.2144C>T | XP_011516790.1:p.Thr715Ile | |
| XR_929747.2:n.2602C>T | ||
| XR_929748.2:n.2500C>T | ||
| NM_015404.4:c.2354C>T MANE Select | NP_056219.3:p.Thr785Ile | |
| NM_001173425.2:c.2351C>T | NP_001166896.1:p.Thr784Ile | |
| NM_001083885.3:c.1205C>T | NP_001077354.2:p.Thr402Ile |