Linked Data
ClinVar Variation Id:
1116785
dbSNP Id:
rs376749638
ExAC:
9:134390888 C / T
gnomAD v2:
9-134390888-C-T
gnomAD v3:
9-131515501-C-T
gnomAD v4:
9-131515501-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131515501C>T , CM000671.2:g.131515501C>T | GRCh38 |
| NC_000009.11:g.134390888C>T , CM000671.1:g.134390888C>T | GRCh37 |
| NC_000009.10:g.133380709C>T | NCBI36 |
| NG_008896.1:g.17600C>T | |
| NG_008896.2:g.17600C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1089C>T | ENSP00000343034.7:p.Pro363= | |
| ENST00000404875.7:n.1791C>T | ||
| ENST00000423007.6:c.1308C>T | ENSP00000404119.2:p.Pro436= | |
| ENST00000677295.2:c.*1595C>T | ENSP00000504346.2:n.*1595C>T | |
| ENST00000678264.2:c.*1434C>T | ENSP00000503157.2:n.*1434C>T | |
| ENST00000682070.1:n.1716C>T | ||
| ENST00000682539.1:c.76C>T | ||
| ENST00000682813.1:n.1516C>T | ||
| ENST00000683392.1:n.3998C>T | ||
| ENST00000683712.1:n.1656C>T | ||
| ENST00000683900.1:n.3151C>T | ||
| ENST00000684062.1:n.1917C>T | ||
| ENST00000684579.1:n.3097C>T | ||
| ENST00000341012.12:c.1089C>T | ENSP00000343034.7:p.Pro363= | |
| ENST00000372220.5:c.120C>T | ENSP00000361294.5:p.Pro40= | |
| ENST00000372228.9:c.1317C>T | ENSP00000361302.3:p.Pro439= | |
| ENST00000402686.8:c.1251C>T MANE Select | ENSP00000385797.4:p.Pro417= | |
| ENST00000676640.1:c.1251C>T | ENSP00000503281.1:p.Pro417= | |
| ENST00000676803.1:c.426C>T | ENSP00000503093.1:p.Pro142= | |
| ENST00000676835.1:c.*466C>T | ENSP00000502911.1:n.*466C>T | |
| ENST00000677029.1:c.795C>T | ENSP00000502936.1:p.Pro265= | |
| ENST00000677099.1:c.*961C>T | ENSP00000504553.1:n.*961C>T | |
| ENST00000677216.1:c.900C>T | ENSP00000503772.1:p.Pro300= | |
| ENST00000677295.1:c.*628C>T | ENSP00000504346.1:n.*628C>T | |
| ENST00000677444.1:c.1057C>T | ||
| ENST00000677586.1:n.732C>T | ||
| ENST00000677626.1:c.900C>T | ENSP00000503552.1:p.Pro300= | |
| ENST00000677677.1:n.1211C>T | ||
| ENST00000677853.1:c.*259C>T | ENSP00000503488.1:n.*259C>T | |
| ENST00000677944.1:c.513C>T | ||
| ENST00000678264.1:c.*628C>T | ENSP00000503157.1:n.*628C>T | |
| ENST00000678303.1:c.1161C>T | ENSP00000503696.1:p.Pro387= | |
| ENST00000678366.1:c.*1500C>T | ENSP00000504353.1:n.*1500C>T | |
| ENST00000678546.1:c.*1196C>T | ENSP00000503062.1:n.*1196C>T | |
| ENST00000678548.1:c.*1323C>T | ENSP00000503934.1:n.*1323C>T | |
| ENST00000678626.1:n.948C>T | ||
| ENST00000678733.1:c.332C>T | ||
| ENST00000678739.1:c.*1577C>T | ENSP00000503806.1:n.*1577C>T | |
| ENST00000678795.1:n.338C>T | ||
| ENST00000678833.1:c.*698C>T | ENSP00000503893.1:n.*698C>T | |
| ENST00000678942.1:c.431C>T | ENSP00000504690.1:n.431C>T | |
| ENST00000679023.1:c.1089C>T | ENSP00000503718.1:p.Pro363= | |
| ENST00000679076.1:c.870C>T | ||
| ENST00000679111.1:c.1251C>T | ENSP00000504257.1:p.Pro417= | |
| ENST00000679189.1:c.900C>T | ENSP00000503356.1:p.Pro300= | |
| ENST00000341012.11:c.1089C>T | ENSP00000343034.7:p.Pro363= | |
| ENST00000372228.7:c.1317C>T | ENSP00000361302.3:p.Pro439= | |
| ENST00000402686.7:c.1251C>T | ENSP00000385797.3:p.Pro417= | |
| ENST00000404875.6:c.900C>T | ENSP00000384531.2:p.Pro300= | |
| ENST00000423007.5:c.1251C>T | ENSP00000404119.1:p.Pro417= | |
| ENST00000485278.5:n.1806C>T | ||
| NM_001077365.1:c.1251C>T | NP_001070833.1:p.Pro417= | |
| NM_001077366.1:c.1089C>T | NP_001070834.1:p.Pro363= | |
| NM_001136113.1:c.1251C>T | NP_001129585.1:p.Pro417= | |
| NM_001136114.1:c.900C>T | NP_001129586.1:p.Pro300= | |
| NM_007171.3:c.1317C>T | NP_009102.3:p.Pro439= | |
| XM_005272156.1:c.1317C>T | XP_005272213.1:p.Pro439= | |
| XM_005272158.1:c.1155C>T | XP_005272215.1:p.Pro385= | |
| XM_005272159.1:c.966C>T | XP_005272216.1:p.Pro322= | |
| XM_005272162.1:c.120C>T | XP_005272219.1:p.Pro40= | |
| XM_006716932.1:c.966C>T | XP_006716995.1:p.Pro322= | |
| XM_011518140.1:c.1170C>T | XP_011516442.1:p.Pro390= | |
| XM_011518141.1:c.1104C>T | XP_011516443.1:p.Pro368= | |
| XM_011518142.1:c.1008C>T | XP_011516444.1:p.Pro336= | |
| XM_011518143.1:c.1002C>T | XP_011516445.1:p.Pro334= | |
| XM_011518144.1:c.1317C>T | XP_011516446.1:p.Pro439= | |
| XM_011518145.1:c.861C>T | XP_011516447.1:p.Pro287= | |
| XM_011518146.1:c.1002C>T | XP_011516448.1:p.Pro334= | |
| XR_929703.1:n.1493C>T | ||
| NM_001353193.1:c.1317C>T | NP_001340122.1:p.Pro439= | |
| NM_001353194.1:c.1089C>T | NP_001340123.1:p.Pro363= | |
| NM_001353195.1:c.900C>T | NP_001340124.1:p.Pro300= | |
| NM_001353196.1:c.1161C>T | NP_001340125.1:p.Pro387= | |
| NM_001353197.1:c.1155C>T | NP_001340126.1:p.Pro385= | |
| NM_001353198.1:c.1155C>T | NP_001340127.1:p.Pro385= | |
| NM_001353199.1:c.966C>T | NP_001340128.1:p.Pro322= | |
| NM_001353200.1:c.795C>T | NP_001340129.1:p.Pro265= | |
| NR_148391.1:n.1301C>T | ||
| NR_148392.1:n.1519C>T | ||
| NR_148393.1:n.1301C>T | ||
| NR_148394.1:n.1194C>T | ||
| NR_148395.1:n.1453C>T | ||
| NR_148396.1:n.1087C>T | ||
| NR_148397.1:n.1351C>T | ||
| NR_148398.1:n.1306C>T | ||
| NR_148399.1:n.1693C>T | ||
| NR_148400.1:n.1292C>T | ||
| XM_005272162.3:c.120C>T | XP_005272219.1:p.Pro40= | |
| XM_006716932.2:c.966C>T | XP_006716995.1:p.Pro322= | |
| XM_011518140.2:c.1170C>T | XP_011516442.1:p.Pro390= | |
| XM_011518141.2:c.1104C>T | XP_011516443.1:p.Pro368= | |
| XM_011518142.2:c.1008C>T | XP_011516444.1:p.Pro336= | |
| XM_011518143.2:c.1002C>T | XP_011516445.1:p.Pro334= | |
| XM_011518145.2:c.861C>T | XP_011516447.1:p.Pro287= | |
| XM_017014205.2:c.120C>T | XP_016869694.1:p.Pro40= | |
| XM_024447380.1:c.120C>T | XP_024303148.1:p.Pro40= | |
| XM_024447381.1:c.426C>T | XP_024303149.1:p.Pro142= | |
| XM_024447382.1:c.120C>T | XP_024303150.1:p.Pro40= | |
| XR_001746160.2:n.1421C>T | ||
| XR_001746162.2:n.1487C>T | ||
| XR_001746164.1:n.1204C>T | ||
| XR_001746166.2:n.1638C>T | ||
| NM_001077365.2:c.1251C>T MANE Select | NP_001070833.1:p.Pro417= | |
| NM_001077366.2:c.1089C>T | NP_001070834.1:p.Pro363= | |
| NM_001136113.2:c.1251C>T | NP_001129585.1:p.Pro417= | |
| NM_001136114.2:c.900C>T | NP_001129586.1:p.Pro300= | |
| NM_001353193.2:c.1317C>T | NP_001340122.2:p.Pro439= | |
| NM_001353194.2:c.1089C>T | NP_001340123.1:p.Pro363= | |
| NM_001353195.2:c.900C>T | NP_001340124.1:p.Pro300= | |
| NM_001353196.2:c.1161C>T | NP_001340125.1:p.Pro387= | |
| NM_001353197.2:c.1155C>T | NP_001340126.2:p.Pro385= | |
| NM_001353198.2:c.1155C>T | NP_001340127.2:p.Pro385= | |
| NM_001353199.2:c.966C>T | NP_001340128.2:p.Pro322= | |
| NM_001353200.2:c.795C>T | NP_001340129.1:p.Pro265= | |
| NM_001374689.1:c.1239C>T | NP_001361618.1:p.Pro413= | |
| NM_001374690.1:c.1251C>T | NP_001361619.1:p.Pro417= | |
| NM_001374691.1:c.900C>T | NP_001361620.1:p.Pro300= | |
| NM_001374692.1:c.900C>T | NP_001361621.1:p.Pro300= | |
| NM_001374693.1:c.900C>T | NP_001361622.1:p.Pro300= | |
| NM_001374695.1:c.861C>T | NP_001361624.1:p.Pro287= | |
| NM_007171.4:c.1317C>T | NP_009102.4:p.Pro439= | |
| NR_148391.2:n.1285C>T | ||
| NR_148392.2:n.1503C>T | ||
| NR_148393.2:n.1285C>T | ||
| NR_148394.2:n.1178C>T | ||
| NR_148395.2:n.1437C>T | ||
| NR_148396.2:n.1071C>T | ||
| NR_148397.2:n.1335C>T | ||
| NR_148398.2:n.1290C>T | ||
| NR_148399.2:n.1677C>T | ||
| NR_148400.2:n.1276C>T |