Linked Data
ClinVar Variation Id:
227287
dbSNP Id:
rs760471578
ExAC:
9:117169155 G / A
gnomAD v2:
9-117169155-G-A
gnomAD v3:
9-114406875-G-A
gnomAD v4:
9-114406875-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114406875G>A , CM000671.2:g.114406875G>A | GRCh38 |
| NC_000009.11:g.117169155G>A , CM000671.1:g.117169155G>A | GRCh37 |
| NC_000009.10:g.116208976G>A | NCBI36 |
| NG_016700.1:g.103582C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699485.1:c.60C>T | ENSP00000514396.1:p.Thr20= | |
| ENST00000362057.4:c.1716C>T MANE Select | ENSP00000354623.3:p.Thr572= | |
| ENST00000673811.1:n.2440C>T | ||
| ENST00000674036.8:c.689C>T | ||
| ENST00000674048.1:n.1597C>T | ||
| ENST00000265134.10:c.567C>T | ENSP00000265134.6:p.Thr189= | |
| ENST00000362057.3:c.1716C>T | ENSP00000354623.3:p.Thr572= | |
| ENST00000374059.7:c.663C>T | ENSP00000363172.3:p.Thr221= | |
| NM_001083885.2:c.567C>T | NP_001077354.2:p.Thr189= | |
| NM_001173425.1:c.1716C>T | NP_001166896.1:p.Thr572= | |
| NM_015404.3:c.1716C>T | NP_056219.3:p.Thr572= | |
| XM_005251897.3:c.1053C>T | XP_005251954.2:p.Thr351= | |
| XM_011518484.1:c.1749C>T | XP_011516786.1:p.Thr583= | |
| XM_011518485.1:c.1749C>T | XP_011516787.1:p.Thr583= | |
| XM_011518486.1:c.1749C>T | XP_011516788.1:p.Thr583= | |
| XM_011518487.1:c.1623C>T | XP_011516789.1:p.Thr541= | |
| XM_011518488.1:c.1506C>T | XP_011516790.1:p.Thr502= | |
| XM_011518495.1:c.426C>T | XP_011516797.1:p.Thr142= | |
| XR_929747.1:n.2653C>T | ||
| XR_929748.1:n.2551C>T | ||
| XR_929751.1:n.2559C>T | ||
| XR_929757.1:n.2526C>T | ||
| NM_001346890.1:c.663C>T | NP_001333819.1:p.Thr221= | |
| XM_011518486.2:c.1749C>T | XP_011516788.1:p.Thr583= | |
| XM_011518487.2:c.1623C>T | XP_011516789.1:p.Thr541= | |
| XM_011518488.2:c.1506C>T | XP_011516790.1:p.Thr502= | |
| XR_929747.2:n.1964C>T | ||
| XR_929748.2:n.1862C>T | ||
| XR_929757.2:n.1837C>T | ||
| NM_015404.4:c.1716C>T MANE Select | NP_056219.3:p.Thr572= | |
| NM_001173425.2:c.1716C>T | NP_001166896.1:p.Thr572= | |
| NM_001083885.3:c.567C>T | NP_001077354.2:p.Thr189= |