Linked Data
ClinVar Variation Id:
402209
ClinVar RCV Id:
RCV000454347
dbSNP Id:
rs1060499774
PubMed:
PMID:26539891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.66455465C>A , CM000674.2:g.66455465C>A | GRCh38 |
| NC_000012.11:g.66849245C>A , CM000674.1:g.66849245C>A | GRCh37 |
| NC_000012.10:g.65135512C>A | NCBI36 |
| NG_021400.1:g.228681G>T | |
| NG_021400.2:g.618801G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696989.1:c.1367G>T | ENSP00000513025.1:p.Ser456Ile | |
| ENST00000359742.9:c.1298G>T MANE Select | ENSP00000352780.4:p.Ser433Ile | |
| ENST00000359742.8:c.1298G>T | ENSP00000352780.4:p.Ser433Ile | |
| ENST00000398016.7:c.1142G>T | ENSP00000381098.3:p.Ser381Ile | |
| ENST00000535002.1:c.404G>T | ||
| ENST00000536215.5:c.874+7459G>T | ENSP00000446011.1:n.874+7459G>T | |
| ENST00000538164.5:c.742G>T | ||
| ENST00000538211.5:c.1142G>T | ENSP00000446047.1:p.Ser381Ile | |
| ENST00000540433.5:c.974G>T | ENSP00000446024.1:p.Ser325Ile | |
| ENST00000540854.5:c.337+60154G>T | ENSP00000443006.1:n.337+60154G>T | |
| ENST00000543172.5:c.600G>T | ||
| NM_001178074.1:c.1142G>T | NP_001171545.1:p.Ser381Ile | |
| NM_021150.3:c.1142G>T | NP_066973.2:p.Ser381Ile | |
| XM_005268754.3:c.1301G>T | XP_005268811.1:p.Ser434Ile | |
| XM_005268757.3:c.1220G>T | XP_005268814.1:p.Ser407Ile | |
| XM_011538089.1:c.1523G>T | XP_011536391.1:p.Ser508Ile | |
| XM_011538090.1:c.1523G>T | XP_011536392.1:p.Ser508Ile | |
| XM_011538091.1:c.1367G>T | XP_011536393.1:p.Ser456Ile | |
| XM_011538092.1:c.1367G>T | XP_011536394.1:p.Ser456Ile | |
| XM_011538093.1:c.1298G>T | XP_011536395.1:p.Ser433Ile | |
| XM_011538094.1:c.1130G>T | XP_011536396.1:p.Ser377Ile | |
| NM_001366722.1:c.1298G>T MANE Select | NP_001353651.1:p.Ser433Ile | |
| NM_001366723.1:c.1217G>T | NP_001353652.1:p.Ser406Ile | |
| NM_001366724.1:c.1220G>T | NP_001353653.1:p.Ser407Ile | |
| XM_005268754.4:c.1301G>T | XP_005268811.1:p.Ser434Ile | |
| XM_005268757.4:c.1220G>T | XP_005268814.1:p.Ser407Ile | |
| XM_017019098.1:c.1523G>T | XP_016874587.1:p.Ser508Ile | |
| XM_017019099.1:c.1376G>T | XP_016874588.1:p.Ser459Ile | |
| XM_017019100.1:c.1367G>T | XP_016874589.1:p.Ser456Ile | |
| NM_001178074.2:c.1142G>T | NP_001171545.1:p.Ser381Ile | |
| NM_021150.4:c.1142G>T | NP_066973.2:p.Ser381Ile | |
| NM_001379345.1:c.1376G>T | NP_001366274.1:p.Ser459Ile | |
| NM_001379346.1:c.1298G>T | NP_001366275.1:p.Ser433Ile | |
| NM_001379347.1:c.1220G>T | NP_001366276.1:p.Ser407Ile | |
| NM_001379348.1:c.1217G>T | NP_001366277.1:p.Ser406Ile | |
| NM_001379349.1:c.1145G>T | NP_001366278.1:p.Ser382Ile | |
| NM_001379351.1:c.1142G>T | NP_001366280.1:p.Ser381Ile |