Linked Data
ClinVar Variation Id:
137617
dbSNP Id:
rs587777443
gnomAD v3:
5-119525259-T-C
gnomAD v4:
5-119525259-T-C
PubMed:
PMID:23181892
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119525259T>C , CM000667.2:g.119525259T>C | GRCh38 |
| NC_000005.9:g.118860954T>C , CM000667.1:g.118860954T>C | GRCh37 |
| NC_000005.8:g.118888853T>C | NCBI36 |
| NG_008182.1:g.77807T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509514.6:c.1478T>C | ENSP00000426272.2:p.Ile493Thr | |
| ENST00000518349.6:c.791T>C | ENSP00000507185.1:p.Ile264Thr | |
| ENST00000520244.6:n.3285T>C | ||
| ENST00000682445.1:c.*1428T>C | ENSP00000508061.1:n.*1428T>C | |
| ENST00000682531.1:n.3439T>C | ||
| ENST00000682626.1:c.*1053T>C | ENSP00000507857.1:n.*1053T>C | |
| ENST00000682996.1:c.1475T>C | ENSP00000507792.1:p.Ile492Thr | |
| ENST00000683265.1:n.3333T>C | ||
| ENST00000683335.1:n.2949T>C | ||
| ENST00000683371.1:c.*1677T>C | ENSP00000508376.1:n.*1677T>C | |
| ENST00000683372.1:n.3557T>C | ||
| ENST00000683390.1:n.3237T>C | ||
| ENST00000683476.1:n.389T>C | ||
| ENST00000683549.1:n.3161T>C | ||
| ENST00000683936.1:c.*3125T>C | ENSP00000507721.1:n.*3125T>C | |
| ENST00000683974.1:n.3276T>C | ||
| ENST00000683996.1:c.*757T>C | ENSP00000507060.1:n.*757T>C | |
| ENST00000684131.1:n.3079T>C | ||
| ENST00000684160.1:c.*1237T>C | ENSP00000507821.1:n.*1237T>C | |
| ENST00000684214.1:c.1547T>C | ENSP00000508071.1:p.Ile516Thr | |
| ENST00000414835.7:c.1622T>C | ENSP00000411960.3:p.Ile541Thr | |
| ENST00000510025.7:c.1547T>C MANE Select | ENSP00000424940.3:p.Ile516Thr | |
| ENST00000643250.1:c.*1419T>C | ENSP00000494737.1:n.*1419T>C | |
| ENST00000644146.1:c.*2818T>C | ENSP00000494808.1:n.*2818T>C | |
| ENST00000645099.1:c.1106T>C | ENSP00000496091.1:p.Ile369Thr | |
| ENST00000645702.1:c.*950T>C | ENSP00000496432.1:n.*950T>C | |
| ENST00000645832.1:c.*1432T>C | ENSP00000494316.1:n.*1432T>C | |
| ENST00000646058.1:c.1547T>C | ENSP00000493579.1:p.Ile516Thr | |
| ENST00000646355.1:c.*1553T>C | ENSP00000493801.1:n.*1553T>C | |
| ENST00000646554.1:c.*1525T>C | ENSP00000494542.1:n.*1525T>C | |
| ENST00000647335.1:c.*1514T>C | ENSP00000495180.1:n.*1514T>C | |
| ENST00000647342.1:c.*1478T>C | ENSP00000494992.1:n.*1478T>C | |
| ENST00000256216.10:c.1547T>C | ENSP00000256216.6:p.Ile516Thr | |
| ENST00000414835.6:c.1127T>C | ENSP00000411960.2:p.Ile376Thr | |
| ENST00000442060.7:c.*109T>C | ENSP00000390208.3:n.*109T>C | |
| ENST00000504811.5:c.1622T>C | ENSP00000420914.1:p.Ile541Thr | |
| ENST00000509514.5:c.761T>C | ENSP00000426272.1:p.Ile254Thr | |
| ENST00000509951.5:n.2T>C | ||
| ENST00000510025.5:c.1475T>C | ENSP00000424940.1:p.Ile492Thr | |
| ENST00000513628.5:c.1136T>C | ENSP00000425993.1:p.Ile379Thr | |
| ENST00000515235.6:n.3300T>C | ||
| ENST00000515320.5:c.1493T>C | ENSP00000424613.1:p.Ile498Thr | |
| ENST00000518349.5:n.681T>C | ||
| ENST00000520244.5:n.330T>C | ||
| ENST00000522415.5:n.214T>C | ||
| NM_000414.3:c.1547T>C | NP_000405.1:p.Ile516Thr | |
| NM_001199291.2:c.1622T>C | NP_001186220.1:p.Ile541Thr | |
| NM_001199292.1:c.1493T>C | NP_001186221.1:p.Ile498Thr | |
| NM_001292027.1:c.1475T>C | NP_001278956.1:p.Ile492Thr | |
| NM_001292028.1:c.1127T>C | NP_001278957.1:p.Ile376Thr | |
| NM_000414.4:c.1547T>C MANE Select | NP_000405.1:p.Ile516Thr | |
| NM_001199291.3:c.1622T>C | NP_001186220.1:p.Ile541Thr | |
| NM_001199292.2:c.1493T>C | NP_001186221.1:p.Ile498Thr | |
| NM_001292027.2:c.1475T>C | NP_001278956.1:p.Ile492Thr | |
| NM_001292028.2:c.1127T>C | NP_001278957.1:p.Ile376Thr | |
| NM_001374497.1:c.1538T>C | NP_001361426.1:p.Ile513Thr | |
| NM_001374498.1:c.1475T>C | NP_001361427.1:p.Ile492Thr | |
| NM_001374499.1:c.1220T>C | NP_001361428.1:p.Ile407Thr | |
| NM_001374500.1:c.1106T>C | NP_001361429.1:p.Ile369Thr | |
| NM_001374501.1:c.1136T>C | NP_001361430.1:p.Ile379Thr | |
| NM_001374502.1:c.1136T>C | NP_001361431.1:p.Ile379Thr | |
| NM_001374503.1:c.1136T>C | NP_001361432.1:p.Ile379Thr | |
| NR_164653.1:n.1644T>C | ||
| NR_164654.1:n.1912T>C |