Linked Data
ClinVar Variation Id:
471377
ClinVar RCV Id:
RCV000551846
dbSNP Id:
rs200204923
ExAC:
9:134394338 G / A
gnomAD v2:
9-134394338-G-A
gnomAD v3:
9-131518951-G-A
gnomAD v4:
9-131518951-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131518951G>A , CM000671.2:g.131518951G>A | GRCh38 |
| NC_000009.11:g.134394338G>A , CM000671.1:g.134394338G>A | GRCh37 |
| NC_000009.10:g.133384159G>A | NCBI36 |
| NG_008896.1:g.21050G>A | |
| NG_008896.2:g.21050G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341012.13:c.1318G>A | ENSP00000343034.7:p.Gly440Ser | |
| ENST00000404875.7:n.2020G>A | ||
| ENST00000423007.6:c.1537G>A | ENSP00000404119.2:p.Gly513Ser | |
| ENST00000677295.2:c.*1824G>A | ENSP00000504346.2:n.*1824G>A | |
| ENST00000678264.2:c.*1663G>A | ENSP00000503157.2:n.*1663G>A | |
| ENST00000682070.1:n.1945G>A | ||
| ENST00000682539.1:c.418G>A | ||
| ENST00000682813.1:n.1884G>A | ||
| ENST00000683392.1:n.4227G>A | ||
| ENST00000683712.1:n.1885G>A | ||
| ENST00000683900.1:n.3380G>A | ||
| ENST00000684062.1:n.2146G>A | ||
| ENST00000684579.1:n.3326G>A | ||
| ENST00000684679.1:n.707G>A | ||
| ENST00000341012.12:c.1318G>A | ENSP00000343034.7:p.Gly440Ser | |
| ENST00000372220.5:c.349G>A | ENSP00000361294.5:p.Gly117Ser | |
| ENST00000372228.9:c.1546G>A | ENSP00000361302.3:p.Gly516Ser | |
| ENST00000402686.8:c.1480G>A MANE Select | ENSP00000385797.4:p.Gly494Ser | |
| ENST00000676640.1:c.1480G>A | ENSP00000503281.1:p.Gly494Ser | |
| ENST00000676803.1:c.655G>A | ENSP00000503093.1:p.Gly219Ser | |
| ENST00000676835.1:c.*695G>A | ENSP00000502911.1:n.*695G>A | |
| ENST00000677029.1:c.1024G>A | ENSP00000502936.1:p.Gly342Ser | |
| ENST00000677099.1:c.*1190G>A | ENSP00000504553.1:n.*1190G>A | |
| ENST00000677216.1:c.1129G>A | ENSP00000503772.1:p.Gly377Ser | |
| ENST00000677221.1:n.505G>A | ||
| ENST00000677295.1:c.*857G>A | ENSP00000504346.1:n.*857G>A | |
| ENST00000677444.1:c.1425G>A | ||
| ENST00000677586.1:n.961G>A | ||
| ENST00000677626.1:c.1129G>A | ENSP00000503552.1:p.Gly377Ser | |
| ENST00000677677.1:n.1440G>A | ||
| ENST00000677853.1:c.*488G>A | ENSP00000503488.1:n.*488G>A | |
| ENST00000678202.1:n.639G>A | ||
| ENST00000678264.1:c.*857G>A | ENSP00000503157.1:n.*857G>A | |
| ENST00000678303.1:c.1390G>A | ENSP00000503696.1:p.Gly464Ser | |
| ENST00000678366.1:c.*1729G>A | ENSP00000504353.1:n.*1729G>A | |
| ENST00000678546.1:c.*1425G>A | ENSP00000503062.1:n.*1425G>A | |
| ENST00000678548.1:c.*1552G>A | ENSP00000503934.1:n.*1552G>A | |
| ENST00000678626.1:n.1316G>A | ||
| ENST00000678733.1:c.561G>A | ||
| ENST00000678739.1:c.*1806G>A | ENSP00000503806.1:n.*1806G>A | |
| ENST00000678833.1:c.*927G>A | ENSP00000503893.1:n.*927G>A | |
| ENST00000679023.1:c.1318G>A | ENSP00000503718.1:p.Gly440Ser | |
| ENST00000679076.1:c.1099G>A | ||
| ENST00000679111.1:c.*236G>A | ENSP00000504257.1:n.*236G>A | |
| ENST00000679189.1:c.1129G>A | ENSP00000503356.1:p.Gly377Ser | |
| ENST00000341012.11:c.1318G>A | ENSP00000343034.7:p.Gly440Ser | |
| ENST00000372220.4:c.343G>A | ENSP00000361294.4:p.Gly115Ser | |
| ENST00000372228.7:c.1546G>A | ENSP00000361302.3:p.Gly516Ser | |
| ENST00000402686.7:c.1480G>A | ENSP00000385797.3:p.Gly494Ser | |
| ENST00000404875.6:c.1129G>A | ENSP00000384531.2:p.Gly377Ser | |
| ENST00000423007.5:c.1480G>A | ENSP00000404119.1:p.Gly494Ser | |
| ENST00000467848.1:n.184G>A | ||
| ENST00000485278.5:n.2035G>A | ||
| NM_001077365.1:c.1480G>A | NP_001070833.1:p.Gly494Ser | |
| NM_001077366.1:c.1318G>A | NP_001070834.1:p.Gly440Ser | |
| NM_001136113.1:c.1480G>A | NP_001129585.1:p.Gly494Ser | |
| NM_001136114.1:c.1129G>A | NP_001129586.1:p.Gly377Ser | |
| NM_007171.3:c.1546G>A | NP_009102.3:p.Gly516Ser | |
| XM_005272156.1:c.1546G>A | XP_005272213.1:p.Gly516Ser | |
| XM_005272158.1:c.1384G>A | XP_005272215.1:p.Gly462Ser | |
| XM_005272159.1:c.1195G>A | XP_005272216.1:p.Gly399Ser | |
| XM_005272162.1:c.349G>A | XP_005272219.1:p.Gly117Ser | |
| XM_006716932.1:c.1195G>A | XP_006716995.1:p.Gly399Ser | |
| XM_011518140.1:c.1399G>A | XP_011516442.1:p.Gly467Ser | |
| XM_011518141.1:c.1333G>A | XP_011516443.1:p.Gly445Ser | |
| XM_011518142.1:c.1237G>A | XP_011516444.1:p.Gly413Ser | |
| XM_011518143.1:c.1231G>A | XP_011516445.1:p.Gly411Ser | |
| XM_011518145.1:c.1090G>A | XP_011516447.1:p.Gly364Ser | |
| XM_011518147.1:c.418G>A | XP_011516449.1:p.Gly140Ser | |
| XR_929703.1:n.1722G>A | ||
| NM_001353193.1:c.1546G>A | NP_001340122.1:p.Gly516Ser | |
| NM_001353194.1:c.1318G>A | NP_001340123.1:p.Gly440Ser | |
| NM_001353195.1:c.1129G>A | NP_001340124.1:p.Gly377Ser | |
| NM_001353196.1:c.1390G>A | NP_001340125.1:p.Gly464Ser | |
| NM_001353197.1:c.1384G>A | NP_001340126.1:p.Gly462Ser | |
| NM_001353198.1:c.1384G>A | NP_001340127.1:p.Gly462Ser | |
| NM_001353199.1:c.1195G>A | NP_001340128.1:p.Gly399Ser | |
| NM_001353200.1:c.1024G>A | NP_001340129.1:p.Gly342Ser | |
| NR_148391.1:n.1530G>A | ||
| NR_148392.1:n.1748G>A | ||
| NR_148393.1:n.1669G>A | ||
| NR_148394.1:n.1423G>A | ||
| NR_148395.1:n.1821G>A | ||
| NR_148396.1:n.1455G>A | ||
| NR_148397.1:n.1580G>A | ||
| NR_148398.1:n.1535G>A | ||
| NR_148399.1:n.2061G>A | ||
| NR_148400.1:n.1660G>A | ||
| XM_005272162.3:c.349G>A | XP_005272219.1:p.Gly117Ser | |
| XM_006716932.2:c.1195G>A | XP_006716995.1:p.Gly399Ser | |
| XM_011518140.2:c.1399G>A | XP_011516442.1:p.Gly467Ser | |
| XM_011518141.2:c.1333G>A | XP_011516443.1:p.Gly445Ser | |
| XM_011518142.2:c.1237G>A | XP_011516444.1:p.Gly413Ser | |
| XM_011518143.2:c.1231G>A | XP_011516445.1:p.Gly411Ser | |
| XM_011518145.2:c.1090G>A | XP_011516447.1:p.Gly364Ser | |
| XM_017014205.2:c.349G>A | XP_016869694.1:p.Gly117Ser | |
| XM_024447380.1:c.349G>A | XP_024303148.1:p.Gly117Ser | |
| XM_024447381.1:c.655G>A | XP_024303149.1:p.Gly219Ser | |
| XM_024447382.1:c.349G>A | XP_024303150.1:p.Gly117Ser | |
| XR_001746160.2:n.1650G>A | ||
| XR_001746162.2:n.1855G>A | ||
| XR_001746164.1:n.1572G>A | ||
| XR_001746166.2:n.1867G>A | ||
| NM_001077365.2:c.1480G>A MANE Select | NP_001070833.1:p.Gly494Ser | |
| NM_001077366.2:c.1318G>A | NP_001070834.1:p.Gly440Ser | |
| NM_001136113.2:c.1480G>A | NP_001129585.1:p.Gly494Ser | |
| NM_001136114.2:c.1129G>A | NP_001129586.1:p.Gly377Ser | |
| NM_001353193.2:c.1546G>A | NP_001340122.2:p.Gly516Ser | |
| NM_001353194.2:c.1318G>A | NP_001340123.1:p.Gly440Ser | |
| NM_001353195.2:c.1129G>A | NP_001340124.1:p.Gly377Ser | |
| NM_001353196.2:c.1390G>A | NP_001340125.1:p.Gly464Ser | |
| NM_001353197.2:c.1384G>A | NP_001340126.2:p.Gly462Ser | |
| NM_001353198.2:c.1384G>A | NP_001340127.2:p.Gly462Ser | |
| NM_001353199.2:c.1195G>A | NP_001340128.2:p.Gly399Ser | |
| NM_001353200.2:c.1024G>A | NP_001340129.1:p.Gly342Ser | |
| NM_001374689.1:c.1468G>A | NP_001361618.1:p.Gly490Ser | |
| NM_001374690.1:c.1365+414G>A | NP_001361619.1:n.1365+414G>A | |
| NM_001374691.1:c.1129G>A | NP_001361620.1:p.Gly377Ser | |
| NM_001374692.1:c.1129G>A | NP_001361621.1:p.Gly377Ser | |
| NM_001374693.1:c.1129G>A | NP_001361622.1:p.Gly377Ser | |
| NM_001374695.1:c.1090G>A | NP_001361624.1:p.Gly364Ser | |
| NM_007171.4:c.1546G>A | NP_009102.4:p.Gly516Ser | |
| NR_148391.2:n.1514G>A | ||
| NR_148392.2:n.1732G>A | ||
| NR_148393.2:n.1653G>A | ||
| NR_148394.2:n.1407G>A | ||
| NR_148395.2:n.1805G>A | ||
| NR_148396.2:n.1439G>A | ||
| NR_148397.2:n.1564G>A | ||
| NR_148398.2:n.1519G>A | ||
| NR_148399.2:n.2045G>A | ||
| NR_148400.2:n.1644G>A |