Linked Data
ClinVar Variation Id:
402153
ClinVar RCV Id:
RCV000454194
dbSNP Id:
rs1060499745
PubMed:
PMID:26539891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89694721C>G , CM000678.2:g.89694721C>G | GRCh38 |
| NC_000016.9:g.89761129C>G , CM000678.1:g.89761129C>G | GRCh37 |
| NC_000016.8:g.88288630C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000353379.12:c.725C>G MANE Select | ENSP00000338673.7:p.Thr242Ser | |
| ENST00000331006.12:c.584C>G | ENSP00000329957.8:p.Thr195Ser | |
| ENST00000353379.11:c.725C>G | ENSP00000338673.7:p.Thr242Ser | |
| ENST00000472018.5:n.1512C>G | ||
| ENST00000505473.5:c.512C>G | ENSP00000424415.1:p.Thr171Ser | |
| ENST00000505733.5:n.817C>G | ||
| ENST00000510811.6:c.*523C>G | ENSP00000455976.1:n.*523C>G | |
| ENST00000564192.5:c.608C>G | ENSP00000457055.1:p.Thr203Ser | |
| ENST00000565470.1:c.50-210C>G | ||
| ENST00000617879.1:c.512C>G | ENSP00000484357.1:p.Thr171Ser | |
| NM_001098533.2:c.512C>G | NP_001092003.2:p.Thr171Ser | |
| NM_001160367.1:c.512C>G | NP_001153839.1:p.Thr171Ser | |
| NM_052987.3:c.512C>G | NP_443713.2:p.Thr171Ser | |
| NM_052988.4:c.725C>G | NP_443714.3:p.Thr242Ser | |
| NR_027702.1:n.695C>G | ||
| NR_027703.1:n.695C>G | ||
| XM_006721308.1:c.725C>G | XP_006721371.1:p.Thr242Ser | |
| XM_006721310.1:c.725C>G | XP_006721373.1:p.Thr242Ser | |
| XM_011523405.1:c.821C>G | XP_011521707.1:p.Thr274Ser | |
| XM_011523406.1:c.821C>G | XP_011521708.1:p.Thr274Ser | |
| XM_011523407.1:c.821C>G | XP_011521709.1:p.Thr274Ser | |
| XM_011523408.1:c.821C>G | XP_011521710.1:p.Thr274Ser | |
| XM_011523409.1:c.710C>G | XP_011521711.1:p.Thr237Ser | |
| XM_011523410.1:c.608C>G | XP_011521712.1:p.Thr203Ser | |
| XM_011523411.1:c.608C>G | XP_011521713.1:p.Thr203Ser | |
| XM_011523412.1:c.608C>G | XP_011521714.1:p.Thr203Ser | |
| XM_011523413.1:c.608C>G | XP_011521715.1:p.Thr203Ser | |
| XM_011523414.1:c.608C>G | XP_011521716.1:p.Thr203Ser | |
| XM_011523415.1:c.608C>G | XP_011521717.1:p.Thr203Ser | |
| XM_011523416.1:c.608C>G | XP_011521718.1:p.Thr203Ser | |
| XR_933471.1:n.2742C>G | ||
| XM_006721308.3:c.725C>G | XP_006721371.1:p.Thr242Ser | |
| XM_006721310.3:c.725C>G | XP_006721373.1:p.Thr242Ser | |
| XM_011523405.3:c.821C>G | XP_011521707.1:p.Thr274Ser | |
| XM_011523406.3:c.821C>G | XP_011521708.1:p.Thr274Ser | |
| XM_011523407.3:c.821C>G | XP_011521709.1:p.Thr274Ser | |
| XM_011523408.3:c.821C>G | XP_011521710.1:p.Thr274Ser | |
| XM_011523410.2:c.608C>G | XP_011521712.1:p.Thr203Ser | |
| XM_011523411.2:c.608C>G | XP_011521713.1:p.Thr203Ser | |
| XM_011523413.2:c.608C>G | XP_011521715.1:p.Thr203Ser | |
| XM_011523414.2:c.608C>G | XP_011521716.1:p.Thr203Ser | |
| XM_011523415.3:c.608C>G | XP_011521717.1:p.Thr203Ser | |
| XM_011523416.2:c.608C>G | XP_011521718.1:p.Thr203Ser | |
| XM_017023806.1:c.710C>G | XP_016879295.1:p.Thr237Ser | |
| XM_017023807.2:c.725C>G | XP_016879296.1:p.Thr242Ser | |
| XM_017023808.1:c.512C>G | XP_016879297.1:p.Thr171Ser | |
| XM_017023809.2:c.512C>G | XP_016879298.1:p.Thr171Ser | |
| XM_017023810.1:c.512C>G | XP_016879299.1:p.Thr171Ser | |
| NM_052988.5:c.725C>G MANE Select | NP_443714.3:p.Thr242Ser | |
| NM_001098533.3:c.512C>G | NP_001092003.2:p.Thr171Ser | |
| NM_001160367.2:c.512C>G | NP_001153839.1:p.Thr171Ser | |
| NM_052987.4:c.512C>G | NP_443713.2:p.Thr171Ser | |
| NR_027702.2:n.674C>G | ||
| NR_027703.2:n.674C>G |