Linked Data
ClinVar Variation Id:
290304
dbSNP Id:
rs371653610
ExAC:
9:134390831 C / G
gnomAD v2:
9-134390831-C-G
gnomAD v3:
9-131515444-C-G
gnomAD v4:
9-131515444-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131515444C>G , CM000671.2:g.131515444C>G | GRCh38 |
| NC_000009.11:g.134390831C>G , CM000671.1:g.134390831C>G | GRCh37 |
| NC_000009.10:g.133380652C>G | NCBI36 |
| NG_008896.1:g.17543C>G | |
| NG_008896.2:g.17543C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1032C>G | ENSP00000343034.7:p.Pro344= | |
| ENST00000404875.7:n.1734C>G | ||
| ENST00000423007.6:c.1251C>G | ENSP00000404119.2:p.Pro417= | |
| ENST00000677295.2:c.*1538C>G | ENSP00000504346.2:n.*1538C>G | |
| ENST00000678264.2:c.*1377C>G | ENSP00000503157.2:n.*1377C>G | |
| ENST00000682070.1:n.1659C>G | ||
| ENST00000682539.1:c.19C>G | ||
| ENST00000682813.1:n.1459C>G | ||
| ENST00000683392.1:n.3941C>G | ||
| ENST00000683712.1:n.1599C>G | ||
| ENST00000683900.1:n.3094C>G | ||
| ENST00000684062.1:n.1860C>G | ||
| ENST00000684579.1:n.3040C>G | ||
| ENST00000341012.12:c.1032C>G | ENSP00000343034.7:p.Pro344= | |
| ENST00000372220.5:c.63C>G | ENSP00000361294.5:p.Pro21= | |
| ENST00000372228.9:c.1260C>G | ENSP00000361302.3:p.Pro420= | |
| ENST00000402686.8:c.1194C>G MANE Select | ENSP00000385797.4:p.Pro398= | |
| ENST00000676640.1:c.1194C>G | ENSP00000503281.1:p.Pro398= | |
| ENST00000676803.1:c.369C>G | ENSP00000503093.1:p.Pro123= | |
| ENST00000676835.1:c.*409C>G | ENSP00000502911.1:n.*409C>G | |
| ENST00000677029.1:c.738C>G | ENSP00000502936.1:p.Pro246= | |
| ENST00000677099.1:c.*904C>G | ENSP00000504553.1:n.*904C>G | |
| ENST00000677216.1:c.843C>G | ENSP00000503772.1:p.Pro281= | |
| ENST00000677293.1:c.369C>G | ENSP00000504278.1:p.Pro123= | |
| ENST00000677295.1:c.*571C>G | ENSP00000504346.1:n.*571C>G | |
| ENST00000677444.1:c.1000C>G | ||
| ENST00000677586.1:n.675C>G | ||
| ENST00000677626.1:c.843C>G | ENSP00000503552.1:p.Pro281= | |
| ENST00000677677.1:n.1154C>G | ||
| ENST00000677853.1:c.*202C>G | ENSP00000503488.1:n.*202C>G | |
| ENST00000677944.1:c.456C>G | ||
| ENST00000678264.1:c.*571C>G | ENSP00000503157.1:n.*571C>G | |
| ENST00000678303.1:c.1104C>G | ENSP00000503696.1:p.Pro368= | |
| ENST00000678366.1:c.*1443C>G | ENSP00000504353.1:n.*1443C>G | |
| ENST00000678546.1:c.*1139C>G | ENSP00000503062.1:n.*1139C>G | |
| ENST00000678548.1:c.*1266C>G | ENSP00000503934.1:n.*1266C>G | |
| ENST00000678626.1:n.891C>G | ||
| ENST00000678733.1:c.275C>G | ||
| ENST00000678739.1:c.*1520C>G | ENSP00000503806.1:n.*1520C>G | |
| ENST00000678795.1:n.281C>G | ||
| ENST00000678833.1:c.*641C>G | ENSP00000503893.1:n.*641C>G | |
| ENST00000678942.1:c.374C>G | ENSP00000504690.1:n.374C>G | |
| ENST00000679023.1:c.1032C>G | ENSP00000503718.1:p.Pro344= | |
| ENST00000679076.1:c.813C>G | ||
| ENST00000679111.1:c.1194C>G | ENSP00000504257.1:p.Pro398= | |
| ENST00000679189.1:c.843C>G | ENSP00000503356.1:p.Pro281= | |
| ENST00000341012.11:c.1032C>G | ENSP00000343034.7:p.Pro344= | |
| ENST00000372228.7:c.1260C>G | ENSP00000361302.3:p.Pro420= | |
| ENST00000402686.7:c.1194C>G | ENSP00000385797.3:p.Pro398= | |
| ENST00000404875.6:c.843C>G | ENSP00000384531.2:p.Pro281= | |
| ENST00000423007.5:c.1194C>G | ENSP00000404119.1:p.Pro398= | |
| ENST00000485278.5:n.1749C>G | ||
| NM_001077365.1:c.1194C>G | NP_001070833.1:p.Pro398= | |
| NM_001077366.1:c.1032C>G | NP_001070834.1:p.Pro344= | |
| NM_001136113.1:c.1194C>G | NP_001129585.1:p.Pro398= | |
| NM_001136114.1:c.843C>G | NP_001129586.1:p.Pro281= | |
| NM_007171.3:c.1260C>G | NP_009102.3:p.Pro420= | |
| XM_005272156.1:c.1260C>G | XP_005272213.1:p.Pro420= | |
| XM_005272158.1:c.1098C>G | XP_005272215.1:p.Pro366= | |
| XM_005272159.1:c.909C>G | XP_005272216.1:p.Pro303= | |
| XM_005272162.1:c.63C>G | XP_005272219.1:p.Pro21= | |
| XM_006716932.1:c.909C>G | XP_006716995.1:p.Pro303= | |
| XM_011518140.1:c.1113C>G | XP_011516442.1:p.Pro371= | |
| XM_011518141.1:c.1047C>G | XP_011516443.1:p.Pro349= | |
| XM_011518142.1:c.951C>G | XP_011516444.1:p.Pro317= | |
| XM_011518143.1:c.945C>G | XP_011516445.1:p.Pro315= | |
| XM_011518144.1:c.1260C>G | XP_011516446.1:p.Pro420= | |
| XM_011518145.1:c.804C>G | XP_011516447.1:p.Pro268= | |
| XM_011518146.1:c.945C>G | XP_011516448.1:p.Pro315= | |
| XR_929703.1:n.1436C>G | ||
| NM_001353193.1:c.1260C>G | NP_001340122.1:p.Pro420= | |
| NM_001353194.1:c.1032C>G | NP_001340123.1:p.Pro344= | |
| NM_001353195.1:c.843C>G | NP_001340124.1:p.Pro281= | |
| NM_001353196.1:c.1104C>G | NP_001340125.1:p.Pro368= | |
| NM_001353197.1:c.1098C>G | NP_001340126.1:p.Pro366= | |
| NM_001353198.1:c.1098C>G | NP_001340127.1:p.Pro366= | |
| NM_001353199.1:c.909C>G | NP_001340128.1:p.Pro303= | |
| NM_001353200.1:c.738C>G | NP_001340129.1:p.Pro246= | |
| NR_148391.1:n.1244C>G | ||
| NR_148392.1:n.1462C>G | ||
| NR_148393.1:n.1244C>G | ||
| NR_148394.1:n.1137C>G | ||
| NR_148395.1:n.1396C>G | ||
| NR_148396.1:n.1030C>G | ||
| NR_148397.1:n.1294C>G | ||
| NR_148398.1:n.1249C>G | ||
| NR_148399.1:n.1636C>G | ||
| NR_148400.1:n.1235C>G | ||
| XM_005272162.3:c.63C>G | XP_005272219.1:p.Pro21= | |
| XM_006716932.2:c.909C>G | XP_006716995.1:p.Pro303= | |
| XM_011518140.2:c.1113C>G | XP_011516442.1:p.Pro371= | |
| XM_011518141.2:c.1047C>G | XP_011516443.1:p.Pro349= | |
| XM_011518142.2:c.951C>G | XP_011516444.1:p.Pro317= | |
| XM_011518143.2:c.945C>G | XP_011516445.1:p.Pro315= | |
| XM_011518145.2:c.804C>G | XP_011516447.1:p.Pro268= | |
| XM_017014205.2:c.63C>G | XP_016869694.1:p.Pro21= | |
| XM_024447380.1:c.63C>G | XP_024303148.1:p.Pro21= | |
| XM_024447381.1:c.369C>G | XP_024303149.1:p.Pro123= | |
| XM_024447382.1:c.63C>G | XP_024303150.1:p.Pro21= | |
| XR_001746160.2:n.1364C>G | ||
| XR_001746162.2:n.1430C>G | ||
| XR_001746164.1:n.1147C>G | ||
| XR_001746166.2:n.1581C>G | ||
| NM_001077365.2:c.1194C>G MANE Select | NP_001070833.1:p.Pro398= | |
| NM_001077366.2:c.1032C>G | NP_001070834.1:p.Pro344= | |
| NM_001136113.2:c.1194C>G | NP_001129585.1:p.Pro398= | |
| NM_001136114.2:c.843C>G | NP_001129586.1:p.Pro281= | |
| NM_001353193.2:c.1260C>G | NP_001340122.2:p.Pro420= | |
| NM_001353194.2:c.1032C>G | NP_001340123.1:p.Pro344= | |
| NM_001353195.2:c.843C>G | NP_001340124.1:p.Pro281= | |
| NM_001353196.2:c.1104C>G | NP_001340125.1:p.Pro368= | |
| NM_001353197.2:c.1098C>G | NP_001340126.2:p.Pro366= | |
| NM_001353198.2:c.1098C>G | NP_001340127.2:p.Pro366= | |
| NM_001353199.2:c.909C>G | NP_001340128.2:p.Pro303= | |
| NM_001353200.2:c.738C>G | NP_001340129.1:p.Pro246= | |
| NM_001374689.1:c.1182C>G | NP_001361618.1:p.Pro394= | |
| NM_001374690.1:c.1194C>G | NP_001361619.1:p.Pro398= | |
| NM_001374691.1:c.843C>G | NP_001361620.1:p.Pro281= | |
| NM_001374692.1:c.843C>G | NP_001361621.1:p.Pro281= | |
| NM_001374693.1:c.843C>G | NP_001361622.1:p.Pro281= | |
| NM_001374695.1:c.804C>G | NP_001361624.1:p.Pro268= | |
| NM_007171.4:c.1260C>G | NP_009102.4:p.Pro420= | |
| NR_148391.2:n.1228C>G | ||
| NR_148392.2:n.1446C>G | ||
| NR_148393.2:n.1228C>G | ||
| NR_148394.2:n.1121C>G | ||
| NR_148395.2:n.1380C>G | ||
| NR_148396.2:n.1014C>G | ||
| NR_148397.2:n.1278C>G | ||
| NR_148398.2:n.1233C>G | ||
| NR_148399.2:n.1620C>G | ||
| NR_148400.2:n.1219C>G |