Linked Data
ClinVar Variation Id:
434168
dbSNP Id:
rs117475706
ExAC:
10:61835057 G / A
gnomAD v2:
10-61835057-G-A
gnomAD v3:
10-60075299-G-A
gnomAD v4:
10-60075299-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.60075299G>A , CM000672.2:g.60075299G>A | GRCh38 |
| NC_000010.10:g.61835057G>A , CM000672.1:g.61835057G>A | GRCh37 |
| NC_000010.9:g.61505063G>A | NCBI36 |
| NG_029917.1:g.663228C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000467420.7:c.4489+5238C>T | ENSP00000423968.2:n.4489+5238C>T | |
| ENST00000503366.6:c.4408+5238C>T | ENSP00000425236.1:n.4408+5238C>T | |
| ENST00000280772.7:c.5582C>T MANE Select | ENSP00000280772.1:p.Thr1861Met | |
| ENST00000280772.6:c.5582C>T | ENSP00000280772.1:p.Thr1861Met | |
| ENST00000355288.6:c.1807+5238C>T | ENSP00000347436.2:n.1807+5238C>T | |
| ENST00000373820.5:c.181+5238C>T | ENSP00000362926.1:n.181+5238C>T | |
| ENST00000373827.6:c.4387+5238C>T | ENSP00000362933.2:n.4387+5238C>T | |
| ENST00000503366.5:c.4408+5238C>T | ENSP00000425236.1:n.4408+5238C>T | |
| ENST00000511043.5:c.84+5238C>T | ||
| ENST00000610321.4:c.2613C>T | ||
| ENST00000616444.4:c.1223+5274C>T | ||
| ENST00000618374.4:c.1807+5238C>T | ENSP00000479018.1:n.1807+5238C>T | |
| NM_001149.3:c.1807+5238C>T | NP_001140.2:n.1807+5238C>T | |
| NM_001204403.1:c.4387+5238C>T | NP_001191332.1:n.4387+5238C>T | |
| NM_001204404.1:c.4408+5238C>T | NP_001191333.1:n.4408+5238C>T | |
| NM_020987.3:c.5582C>T | NP_066267.2:p.Thr1861Met | |
| XM_005269715.2:c.4459+5238C>T | XP_005269772.1:n.4459+5238C>T | |
| XM_005269716.2:c.4405+5238C>T | XP_005269773.1:n.4405+5238C>T | |
| XM_006717791.2:c.5654C>T | XP_006717854.1:p.Thr1885Met | |
| XM_006717793.2:c.5654C>T | XP_006717856.1:p.Thr1885Met | |
| XM_006717795.2:c.5654C>T | XP_006717858.1:p.Thr1885Met | |
| XM_006717796.2:c.5654C>T | XP_006717859.1:p.Thr1885Met | |
| XM_006717802.2:c.4498+5238C>T | XP_006717865.1:n.4498+5238C>T | |
| XM_011539700.1:c.5642C>T | XP_011538002.1:p.Thr1881Met | |
| XM_011539701.1:c.5636C>T | XP_011538003.1:p.Thr1879Met | |
| XM_011539702.1:c.5597C>T | XP_011538004.1:p.Thr1866Met | |
| XM_011539703.1:c.5576C>T | XP_011538005.1:p.Thr1859Met | |
| XM_011539704.1:c.5555C>T | XP_011538006.1:p.Thr1852Met | |
| XM_011539705.1:c.5555C>T | XP_011538007.1:p.Thr1852Met | |
| XM_011539706.1:c.5543C>T | XP_011538008.1:p.Thr1848Met | |
| XM_011539707.1:c.5654C>T | XP_011538009.1:p.Thr1885Met | |
| XM_011539708.1:c.5654C>T | XP_011538010.1:p.Thr1885Met | |
| XM_011539709.1:c.5654C>T | XP_011538011.1:p.Thr1885Met | |
| XM_011539710.1:c.4498+5238C>T | XP_011538012.1:n.4498+5238C>T | |
| XM_011539711.1:c.4471+5238C>T | XP_011538013.1:n.4471+5238C>T | |
| XM_011539712.1:c.4462+5274C>T | XP_011538014.1:n.4462+5274C>T | |
| XM_011539713.1:c.4435+5274C>T | XP_011538015.1:n.4435+5274C>T | |
| XM_011539714.1:c.3002C>T | XP_011538016.1:p.Thr1001Met | |
| XM_011539715.1:c.2990C>T | XP_011538017.1:p.Thr997Met | |
| XM_011539716.1:c.4471+5238C>T | XP_011538018.1:n.4471+5238C>T | |
| XM_011539717.1:c.4459+5238C>T | XP_011538019.1:n.4459+5238C>T | |
| XM_011539718.1:c.4342+5238C>T | XP_011538020.1:n.4342+5238C>T | |
| NM_001320874.1:c.4405+5238C>T | NP_001307803.1:n.4405+5238C>T | |
| NM_020987.4:c.5582C>T | NP_066267.2:p.Thr1861Met | |
| XM_005269715.3:c.4459+5238C>T | XP_005269772.1:n.4459+5238C>T | |
| XM_006717796.3:c.5654C>T | XP_006717859.1:p.Thr1885Met | |
| XM_006717802.3:c.4498+5238C>T | XP_006717865.1:n.4498+5238C>T | |
| XM_011539708.2:c.5654C>T | XP_011538010.1:p.Thr1885Met | |
| XM_011539709.2:c.5654C>T | XP_011538011.1:p.Thr1885Met | |
| XM_017016110.1:c.5654C>T | XP_016871599.1:p.Thr1885Met | |
| XM_017016111.1:c.5642C>T | XP_016871600.1:p.Thr1881Met | |
| XM_017016112.1:c.5639C>T | XP_016871601.1:p.Thr1880Met | |
| XM_017016113.1:c.5627C>T | XP_016871602.1:p.Thr1876Met | |
| XM_017016114.1:c.5603C>T | XP_016871603.1:p.Thr1868Met | |
| XM_017016115.1:c.5576C>T | XP_016871604.1:p.Thr1859Met | |
| XM_017016116.1:c.5654C>T | XP_016871605.1:p.Thr1885Met | |
| XM_017016117.1:c.5654C>T | XP_016871606.1:p.Thr1885Met | |
| XM_017016118.1:c.5654C>T | XP_016871607.1:p.Thr1885Met | |
| XM_017016119.1:c.5654C>T | XP_016871608.1:p.Thr1885Met | |
| XM_017016120.1:c.5654C>T | XP_016871609.1:p.Thr1885Met | |
| XM_017016121.1:c.5627C>T | XP_016871610.1:p.Thr1876Met | |
| XM_017016122.1:c.5561C>T | XP_016871611.1:p.Thr1854Met | |
| XM_017016123.1:c.5654C>T | XP_016871612.1:p.Thr1885Met | |
| XM_017016124.1:c.5627C>T | XP_016871613.1:p.Thr1876Met | |
| XM_017016125.1:c.5627C>T | XP_016871614.1:p.Thr1876Met | |
| XM_017016126.1:c.5522C>T | XP_016871615.1:p.Thr1841Met | |
| XM_017016127.1:c.5495C>T | XP_016871616.1:p.Thr1832Met | |
| XM_017016128.1:c.4471+5238C>T | XP_016871617.1:n.4471+5238C>T | |
| XM_017016129.1:c.4471+5238C>T | XP_016871618.1:n.4471+5238C>T | |
| XM_017016130.1:c.4405+5238C>T | XP_016871619.1:n.4405+5238C>T | |
| XM_017016131.1:c.4390+5238C>T | XP_016871620.1:n.4390+5238C>T | |
| XM_017016132.1:c.4369+5274C>T | XP_016871621.1:n.4369+5274C>T | |
| XM_017016134.1:c.4339+5238C>T | XP_016871623.1:n.4339+5238C>T | |
| XM_017016136.1:c.4498+5238C>T | XP_016871625.1:n.4498+5238C>T | |
| XM_017016137.1:c.4471+5238C>T | XP_016871626.1:n.4471+5238C>T | |
| XM_017016138.1:c.4471+5238C>T | XP_016871627.1:n.4471+5238C>T | |
| XM_017016141.1:c.4366+5238C>T | XP_016871630.1:n.4366+5238C>T | |
| XM_024447953.1:c.5627C>T | XP_024303721.1:p.Thr1876Met | |
| XM_024447954.1:c.5600C>T | XP_024303722.1:p.Thr1867Met | |
| XM_024447955.1:c.5591C>T | XP_024303723.1:p.Thr1864Met | |
| XM_024447956.1:c.5588C>T | XP_024303724.1:p.Thr1863Met | |
| XM_024447957.1:c.5555C>T | XP_024303725.1:p.Thr1852Met | |
| XM_024447958.1:c.5537C>T | XP_024303726.1:p.Thr1846Met | |
| XM_024447959.1:c.5537C>T | XP_024303727.1:p.Thr1846Met | |
| XM_024447960.1:c.5525C>T | XP_024303728.1:p.Thr1842Met | |
| XM_024447961.1:c.5522C>T | XP_024303729.1:p.Thr1841Met | |
| XM_024447962.1:c.5627C>T | XP_024303730.1:p.Thr1876Met | |
| XM_024447963.1:c.5654C>T | XP_024303731.1:p.Thr1885Met | |
| XM_024447964.1:c.4435+5274C>T | XP_024303732.1:n.4435+5274C>T | |
| XM_024447965.1:c.4462+5274C>T | XP_024303733.1:n.4462+5274C>T | |
| NM_020987.5:c.5582C>T MANE Select | NP_066267.2:p.Thr1861Met | |
| NM_001204403.2:c.4387+5238C>T | NP_001191332.1:n.4387+5238C>T | |
| NM_001204404.2:c.4408+5238C>T | NP_001191333.1:n.4408+5238C>T | |
| NM_001320874.2:c.4405+5238C>T | NP_001307803.1:n.4405+5238C>T | |
| NM_001149.4:c.1807+5238C>T | NP_001140.2:n.1807+5238C>T |