Linked Data
ClinVar Variation Id:
281123
ClinVar RCV Id:
RCV000280753
RCV001003078
RCV001087577
RCV001128316
RCV001578757
RCV001820804
RCV001122598
RCV004542971
dbSNP Id:
rs200865108
ExAC:
17:56284504 A / G
gnomAD v2:
17-56284504-A-G
gnomAD v3:
17-58207143-A-G
gnomAD v4:
17-58207143-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58207143A>G , CM000679.2:g.58207143A>G | GRCh38 |
| NC_000017.10:g.56284504A>G , CM000679.1:g.56284504A>G | GRCh37 |
| NC_000017.9:g.53639503A>G | NCBI36 |
| NG_013020.1:g.19416A>G | |
| NG_013032.1:g.17463T>C , LRG_687:g.17463T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313863.11:c.1273+751T>C | ENSP00000316631.6:n.1273+751T>C | |
| ENST00000393119.7:c.1349T>C MANE Select | ENSP00000376827.2:p.Ile450Thr | |
| ENST00000537529.7:c.920T>C | ENSP00000442096.3:p.Ile307Thr | |
| ENST00000675753.2:c.*968T>C | ENSP00000502156.1:n.*968T>C | |
| ENST00000676787.1:c.1220T>C | ENSP00000503999.1:p.Ile407Thr | |
| ENST00000677111.1:c.*286T>C | ENSP00000504282.1:n.*286T>C | |
| ENST00000677160.1:n.2623T>C | ||
| ENST00000677416.1:n.2049T>C | ||
| ENST00000677486.1:c.*693T>C | ENSP00000503852.1:n.*693T>C | |
| ENST00000677709.1:n.2049T>C | ||
| ENST00000678011.1:n.1712T>C | ||
| ENST00000678432.1:c.*1123T>C | ENSP00000504452.1:n.*1123T>C | |
| ENST00000678463.1:c.1349T>C | ENSP00000502984.1:p.Ile450Thr | |
| ENST00000678568.1:c.*756T>C | ENSP00000504754.1:n.*756T>C | |
| ENST00000678641.1:c.*693T>C | ENSP00000503159.1:n.*693T>C | |
| ENST00000678763.1:n.1127T>C | ||
| ENST00000313863.10:c.1273+751T>C | ENSP00000316631.6:n.1273+751T>C | |
| ENST00000393119.6:c.1349T>C | ENSP00000376827.2:p.Ile450Thr | |
| ENST00000393120.6:c.*756T>C | ENSP00000376828.2:n.*756T>C | |
| ENST00000537529.6:c.1319T>C | ENSP00000442096.2:p.Ile440Thr | |
| NM_001165927.1:c.1319T>C , LRG_687t2:c.1319T>C | NP_001159399.1:p.Ile440Thr | |
| NM_017777.3:c.1349T>C , LRG_687t1:c.1349T>C | NP_060247.2:p.Ile450Thr | |
| XM_005257483.3:c.1349T>C | XP_005257540.1:p.Ile450Thr | |
| XM_005257485.3:c.920T>C | XP_005257542.1:p.Ile307Thr | |
| XM_005257486.3:c.740T>C | XP_005257543.1:p.Ile247Thr | |
| XM_006721965.2:c.740T>C | XP_006722028.1:p.Ile247Thr | |
| XM_011524957.1:c.1358T>C | XP_011523259.1:p.Ile453Thr | |
| XM_011524958.1:c.1358T>C | XP_011523260.1:p.Ile453Thr | |
| XM_011524959.1:c.1282+751T>C | XP_011523261.1:n.1282+751T>C | |
| NM_001321268.1:c.740T>C | NP_001308197.1:p.Ile247Thr | |
| NM_001321269.1:c.1349T>C | NP_001308198.1:p.Ile450Thr | |
| NM_001330397.1:c.1273+751T>C | NP_001317326.1:n.1273+751T>C | |
| XM_005257485.4:c.920T>C | XP_005257542.1:p.Ile307Thr | |
| XM_006721965.3:c.740T>C | XP_006722028.1:p.Ile247Thr | |
| XM_011524957.2:c.1358T>C | XP_011523259.1:p.Ile453Thr | |
| XM_011524958.2:c.1358T>C | XP_011523260.1:p.Ile453Thr | |
| XM_011524959.2:c.1282+751T>C | XP_011523261.1:n.1282+751T>C | |
| XM_017024805.1:c.920T>C | XP_016880294.1:p.Ile307Thr | |
| XR_002958042.1:n.1360T>C | ||
| NM_001321268.2:c.740T>C | NP_001308197.1:p.Ile247Thr | |
| NM_001321269.2:c.1349T>C | NP_001308198.1:p.Ile450Thr | |
| NM_001330397.2:c.1273+751T>C | NP_001317326.1:n.1273+751T>C | |
| NM_017777.4:c.1349T>C MANE Select | NP_060247.2:p.Ile450Thr |