Linked Data
ClinVar Variation Id:
138487
dbSNP Id:
rs190184430
ExAC:
1:161183716 G / A
gnomAD v2:
1-161183716-G-A
gnomAD v3:
1-161213926-G-A
gnomAD v4:
1-161213926-G-A
MutSpliceDB:
CA292498
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161213926G>A , CM000663.2:g.161213926G>A | GRCh38 |
| NC_000001.10:g.161183716G>A , CM000663.1:g.161183716G>A | GRCh37 |
| NC_000001.9:g.159450340G>A | NCBI36 |
| NG_013352.1:g.19612G>A | |
| NG_029043.1:g.3630G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392179.5:c.1359G>A | ENSP00000376018.4:p.Thr453= | |
| ENST00000465923.6:n.1010G>A | ||
| ENST00000467295.6:n.1887G>A | ||
| ENST00000468828.6:n.1186G>A | ||
| ENST00000480762.6:n.1589G>A | ||
| ENST00000483804.6:n.866+5G>A | ||
| ENST00000493849.6:n.2345G>A | ||
| ENST00000496553.6:n.2093+5G>A | ||
| ENST00000676535.1:n.1841G>A | ||
| ENST00000676583.1:c.*830G>A | ENSP00000503681.1:n.*830G>A | |
| ENST00000676600.1:c.1354+5G>A | ENSP00000503989.1:n.1354+5G>A | |
| ENST00000676653.1:n.2115G>A | ||
| ENST00000676726.1:n.1788G>A | ||
| ENST00000676770.1:n.2220+5G>A | ||
| ENST00000676795.1:c.*936+5G>A | ENSP00000504650.1:n.*936+5G>A | |
| ENST00000676871.1:n.1893+5G>A | ||
| ENST00000676972.1:c.1354+5G>A MANE Select | ENSP00000503117.1:n.1354+5G>A | |
| ENST00000676991.1:n.1949G>A | ||
| ENST00000677033.1:n.2423+5G>A | ||
| ENST00000677045.1:c.*1025+5G>A | ENSP00000504168.1:n.*1025+5G>A | |
| ENST00000677050.1:n.2013G>A | ||
| ENST00000677063.1:c.*1030G>A | ENSP00000504572.1:n.*1030G>A | |
| ENST00000677081.1:c.*291G>A | ENSP00000503728.1:n.*291G>A | |
| ENST00000677089.1:n.2913G>A | ||
| ENST00000677103.1:n.1824G>A | ||
| ENST00000677138.1:c.*336G>A | ENSP00000504839.1:n.*336G>A | |
| ENST00000677178.1:n.1793G>A | ||
| ENST00000677231.1:c.1281G>A | ENSP00000503378.1:p.Thr427= | |
| ENST00000677336.1:n.1713G>A | ||
| ENST00000677350.1:n.2157G>A | ||
| ENST00000677358.1:n.1452G>A | ||
| ENST00000677383.1:n.2825G>A | ||
| ENST00000677453.1:c.1417+5G>A | ENSP00000503604.1:n.1417+5G>A | |
| ENST00000677457.1:c.1359G>A | ENSP00000503294.1:p.Thr453= | |
| ENST00000677471.1:n.1708+5G>A | ||
| ENST00000677495.1:n.1719G>A | ||
| ENST00000677547.1:c.*433G>A | ENSP00000504269.1:n.*433G>A | |
| ENST00000677550.1:c.1359G>A | ENSP00000503353.1:p.Thr453= | |
| ENST00000677577.1:n.3985G>A | ||
| ENST00000677579.1:c.1422G>A | ENSP00000504162.1:p.Thr474= | |
| ENST00000677613.1:c.*291G>A | ENSP00000504258.1:n.*291G>A | |
| ENST00000677643.1:n.1768G>A | ||
| ENST00000677653.1:c.*729+5G>A | ENSP00000504542.1:n.*729+5G>A | |
| ENST00000677657.1:n.1763+5G>A | ||
| ENST00000677736.1:n.2144G>A | ||
| ENST00000677745.1:n.2172G>A | ||
| ENST00000677807.1:n.1973+5G>A | ||
| ENST00000677809.1:n.2152+5G>A | ||
| ENST00000677837.1:c.*1088+5G>A | ENSP00000503661.1:n.*1088+5G>A | |
| ENST00000677846.1:c.1417+5G>A | ENSP00000504065.1:n.1417+5G>A | |
| ENST00000677916.1:n.3538G>A | ||
| ENST00000677925.1:n.1978G>A | ||
| ENST00000677948.1:c.*1039+5G>A | ENSP00000503510.1:n.*1039+5G>A | |
| ENST00000678052.1:n.2740G>A | ||
| ENST00000678068.1:n.3090G>A | ||
| ENST00000678130.1:n.2070G>A | ||
| ENST00000678328.1:n.2084G>A | ||
| ENST00000678356.1:n.3565G>A | ||
| ENST00000678484.1:n.3854G>A | ||
| ENST00000678492.1:n.3749G>A | ||
| ENST00000678507.1:c.1354+5G>A | ENSP00000504199.1:n.1354+5G>A | |
| ENST00000678511.1:c.1354+5G>A | ENSP00000504846.1:n.1354+5G>A | |
| ENST00000678532.1:c.*1044G>A | ENSP00000504682.1:n.*1044G>A | |
| ENST00000678559.1:c.*1153G>A | ENSP00000504285.1:n.*1153G>A | |
| ENST00000678605.1:c.1359G>A | ENSP00000503969.1:p.Thr453= | |
| ENST00000678613.1:n.3618G>A | ||
| ENST00000678648.1:n.2029G>A | ||
| ENST00000678783.1:c.1279+5G>A | ENSP00000504215.1:n.1279+5G>A | |
| ENST00000678793.1:c.*682G>A | ENSP00000503431.1:n.*682G>A | |
| ENST00000678850.1:n.1714+5G>A | ||
| ENST00000678880.1:c.*900G>A | ENSP00000503015.1:n.*900G>A | |
| ENST00000678911.1:c.1276+5G>A | ENSP00000503946.1:n.1276+5G>A | |
| ENST00000678966.1:n.1772+5G>A | ||
| ENST00000678982.1:c.*1030G>A | ENSP00000504597.1:n.*1030G>A | |
| ENST00000679064.1:c.*224G>A | ENSP00000502868.1:n.*224G>A | |
| ENST00000679071.1:n.1886+5G>A | ||
| ENST00000679142.1:c.1459G>A | ENSP00000504800.1:n.1459G>A | |
| ENST00000679169.1:c.*1123G>A | ENSP00000504096.1:n.*1123G>A | |
| ENST00000679176.1:c.1359G>A | ENSP00000504170.1:p.Thr453= | |
| ENST00000679215.1:n.2253G>A | ||
| ENST00000679239.1:c.*734G>A | ENSP00000504555.1:n.*734G>A | |
| ENST00000679282.1:c.*219+5G>A | ENSP00000504533.1:n.*219+5G>A | |
| ENST00000367993.7:c.1354+5G>A | ENSP00000356972.3:n.1354+5G>A | |
| ENST00000392179.4:c.1359G>A | ENSP00000376018.4:p.Thr453= | |
| ENST00000465923.5:n.724G>A | ||
| ENST00000468828.5:n.466G>A | ||
| ENST00000483804.5:n.978+5G>A | ||
| ENST00000492153.1:n.373G>A | ||
| ENST00000493849.5:n.540G>A | ||
| NM_001166159.1:c.1359G>A | NP_001159631.1:p.Thr453= | |
| NM_004550.4:c.1354+5G>A | NP_004541.1:n.1354+5G>A | |
| XM_005245208.1:c.1354+5G>A | XP_005245265.1:n.1354+5G>A | |
| XM_005245209.1:c.1060+5G>A | XP_005245266.1:n.1060+5G>A | |
| XM_005245209.2:c.1060+5G>A | XP_005245266.1:n.1060+5G>A | |
| NM_001166159.2:c.1359G>A | NP_001159631.1:p.Thr453= | |
| NM_001377298.1:c.1354+5G>A | NP_001364227.1:n.1354+5G>A | |
| NM_001377299.1:c.1354+5G>A MANE Select | NP_001364228.1:n.1354+5G>A | |
| NM_001377300.1:c.1359G>A | NP_001364229.1:p.Thr453= | |
| NM_001377301.1:c.1359G>A | NP_001364230.1:p.Thr453= | |
| NM_001377302.1:c.1359G>A | NP_001364231.1:p.Thr453= | |
| NR_165188.1:n.1248G>A | ||
| NM_004550.5:c.1354+5G>A | NP_004541.1:n.1354+5G>A |