Linked Data
ClinVar Variation Id:
365280
dbSNP Id:
rs142995404
ExAC:
9:134394358 G / A
gnomAD v2:
9-134394358-G-A
gnomAD v3:
9-131518971-G-A
gnomAD v4:
9-131518971-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131518971G>A , CM000671.2:g.131518971G>A | GRCh38 |
| NC_000009.11:g.134394358G>A , CM000671.1:g.134394358G>A | GRCh37 |
| NC_000009.10:g.133384179G>A | NCBI36 |
| NG_008896.1:g.21070G>A | |
| NG_008896.2:g.21070G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1324+14G>A | ENSP00000343034.7:n.1324+14G>A | |
| ENST00000404875.7:n.2026+14G>A | ||
| ENST00000423007.6:c.1543+14G>A | ENSP00000404119.2:n.1543+14G>A | |
| ENST00000677295.2:c.*1830+14G>A | ENSP00000504346.2:n.*1830+14G>A | |
| ENST00000678264.2:c.*1669+14G>A | ENSP00000503157.2:n.*1669+14G>A | |
| ENST00000682070.1:n.1951+14G>A | ||
| ENST00000682813.1:n.1890+14G>A | ||
| ENST00000683392.1:n.4233+14G>A | ||
| ENST00000683712.1:n.1891+14G>A | ||
| ENST00000683900.1:n.3386+14G>A | ||
| ENST00000684062.1:n.2152+14G>A | ||
| ENST00000684579.1:n.3332+14G>A | ||
| ENST00000684679.1:n.713+14G>A | ||
| ENST00000341012.12:c.1324+14G>A | ENSP00000343034.7:n.1324+14G>A | |
| ENST00000372220.5:c.355+14G>A | ENSP00000361294.5:n.355+14G>A | |
| ENST00000372228.9:c.1552+14G>A | ENSP00000361302.3:n.1552+14G>A | |
| ENST00000402686.8:c.1486+14G>A MANE Select | ENSP00000385797.4:n.1486+14G>A | |
| ENST00000676640.1:c.1486+14G>A | ENSP00000503281.1:n.1486+14G>A | |
| ENST00000676803.1:c.661+14G>A | ENSP00000503093.1:n.661+14G>A | |
| ENST00000676835.1:c.*701+14G>A | ENSP00000502911.1:n.*701+14G>A | |
| ENST00000677029.1:c.1030+14G>A | ENSP00000502936.1:n.1030+14G>A | |
| ENST00000677099.1:c.*1196+14G>A | ENSP00000504553.1:n.*1196+14G>A | |
| ENST00000677216.1:c.1135+14G>A | ENSP00000503772.1:n.1135+14G>A | |
| ENST00000677221.1:n.511+14G>A | ||
| ENST00000677295.1:c.*863+14G>A | ENSP00000504346.1:n.*863+14G>A | |
| ENST00000677444.1:c.1431+14G>A | ||
| ENST00000677586.1:n.967+14G>A | ||
| ENST00000677626.1:c.1135+14G>A | ENSP00000503552.1:n.1135+14G>A | |
| ENST00000677677.1:n.1446+14G>A | ||
| ENST00000677853.1:c.*494+14G>A | ENSP00000503488.1:n.*494+14G>A | |
| ENST00000678202.1:n.645+14G>A | ||
| ENST00000678264.1:c.*863+14G>A | ENSP00000503157.1:n.*863+14G>A | |
| ENST00000678303.1:c.1396+14G>A | ENSP00000503696.1:n.1396+14G>A | |
| ENST00000678366.1:c.*1735+14G>A | ENSP00000504353.1:n.*1735+14G>A | |
| ENST00000678546.1:c.*1431+14G>A | ENSP00000503062.1:n.*1431+14G>A | |
| ENST00000678548.1:c.*1558+14G>A | ENSP00000503934.1:n.*1558+14G>A | |
| ENST00000678626.1:n.1322+14G>A | ||
| ENST00000678733.1:c.567+14G>A | ||
| ENST00000678739.1:c.*1812+14G>A | ENSP00000503806.1:n.*1812+14G>A | |
| ENST00000678833.1:c.*933+14G>A | ENSP00000503893.1:n.*933+14G>A | |
| ENST00000679023.1:c.1324+14G>A | ENSP00000503718.1:n.1324+14G>A | |
| ENST00000679076.1:c.1105+14G>A | ||
| ENST00000679111.1:c.*242+14G>A | ENSP00000504257.1:n.*242+14G>A | |
| ENST00000679189.1:c.1135+14G>A | ENSP00000503356.1:n.1135+14G>A | |
| ENST00000341012.11:c.1324+14G>A | ENSP00000343034.7:n.1324+14G>A | |
| ENST00000372220.4:c.349+14G>A | ENSP00000361294.4:n.349+14G>A | |
| ENST00000372228.7:c.1552+14G>A | ENSP00000361302.3:n.1552+14G>A | |
| ENST00000402686.7:c.1486+14G>A | ENSP00000385797.3:n.1486+14G>A | |
| ENST00000404875.6:c.1135+14G>A | ENSP00000384531.2:n.1135+14G>A | |
| ENST00000423007.5:c.1486+14G>A | ENSP00000404119.1:n.1486+14G>A | |
| ENST00000467848.1:n.190+14G>A | ||
| ENST00000485278.5:n.2041+14G>A | ||
| NM_001077365.1:c.1486+14G>A | NP_001070833.1:n.1486+14G>A | |
| NM_001077366.1:c.1324+14G>A | NP_001070834.1:n.1324+14G>A | |
| NM_001136113.1:c.1486+14G>A | NP_001129585.1:n.1486+14G>A | |
| NM_001136114.1:c.1135+14G>A | NP_001129586.1:n.1135+14G>A | |
| NM_007171.3:c.1552+14G>A | NP_009102.3:n.1552+14G>A | |
| XM_005272156.1:c.1552+14G>A | XP_005272213.1:n.1552+14G>A | |
| XM_005272158.1:c.1390+14G>A | XP_005272215.1:n.1390+14G>A | |
| XM_005272159.1:c.1201+14G>A | XP_005272216.1:n.1201+14G>A | |
| XM_005272162.1:c.355+14G>A | XP_005272219.1:n.355+14G>A | |
| XM_006716932.1:c.1201+14G>A | XP_006716995.1:n.1201+14G>A | |
| XM_011518140.1:c.1405+14G>A | XP_011516442.1:n.1405+14G>A | |
| XM_011518141.1:c.1339+14G>A | XP_011516443.1:n.1339+14G>A | |
| XM_011518142.1:c.1243+14G>A | XP_011516444.1:n.1243+14G>A | |
| XM_011518143.1:c.1237+14G>A | XP_011516445.1:n.1237+14G>A | |
| XM_011518145.1:c.1096+14G>A | XP_011516447.1:n.1096+14G>A | |
| XM_011518147.1:c.424+14G>A | XP_011516449.1:n.424+14G>A | |
| XR_929703.1:n.1728+14G>A | ||
| NM_001353193.1:c.1552+14G>A | NP_001340122.1:n.1552+14G>A | |
| NM_001353194.1:c.1324+14G>A | NP_001340123.1:n.1324+14G>A | |
| NM_001353195.1:c.1135+14G>A | NP_001340124.1:n.1135+14G>A | |
| NM_001353196.1:c.1396+14G>A | NP_001340125.1:n.1396+14G>A | |
| NM_001353197.1:c.1390+14G>A | NP_001340126.1:n.1390+14G>A | |
| NM_001353198.1:c.1390+14G>A | NP_001340127.1:n.1390+14G>A | |
| NM_001353199.1:c.1201+14G>A | NP_001340128.1:n.1201+14G>A | |
| NM_001353200.1:c.1030+14G>A | NP_001340129.1:n.1030+14G>A | |
| NR_148391.1:n.1536+14G>A | ||
| NR_148392.1:n.1754+14G>A | ||
| NR_148393.1:n.1675+14G>A | ||
| NR_148394.1:n.1429+14G>A | ||
| NR_148395.1:n.1827+14G>A | ||
| NR_148396.1:n.1461+14G>A | ||
| NR_148397.1:n.1586+14G>A | ||
| NR_148398.1:n.1541+14G>A | ||
| NR_148399.1:n.2067+14G>A | ||
| NR_148400.1:n.1666+14G>A | ||
| XM_005272162.3:c.355+14G>A | XP_005272219.1:n.355+14G>A | |
| XM_006716932.2:c.1201+14G>A | XP_006716995.1:n.1201+14G>A | |
| XM_011518140.2:c.1405+14G>A | XP_011516442.1:n.1405+14G>A | |
| XM_011518141.2:c.1339+14G>A | XP_011516443.1:n.1339+14G>A | |
| XM_011518142.2:c.1243+14G>A | XP_011516444.1:n.1243+14G>A | |
| XM_011518143.2:c.1237+14G>A | XP_011516445.1:n.1237+14G>A | |
| XM_011518145.2:c.1096+14G>A | XP_011516447.1:n.1096+14G>A | |
| XM_017014205.2:c.355+14G>A | XP_016869694.1:n.355+14G>A | |
| XM_024447380.1:c.355+14G>A | XP_024303148.1:n.355+14G>A | |
| XM_024447381.1:c.661+14G>A | XP_024303149.1:n.661+14G>A | |
| XM_024447382.1:c.355+14G>A | XP_024303150.1:n.355+14G>A | |
| XR_001746160.2:n.1656+14G>A | ||
| XR_001746162.2:n.1861+14G>A | ||
| XR_001746164.1:n.1578+14G>A | ||
| XR_001746166.2:n.1873+14G>A | ||
| NM_001077365.2:c.1486+14G>A MANE Select | NP_001070833.1:n.1486+14G>A | |
| NM_001077366.2:c.1324+14G>A | NP_001070834.1:n.1324+14G>A | |
| NM_001136113.2:c.1486+14G>A | NP_001129585.1:n.1486+14G>A | |
| NM_001136114.2:c.1135+14G>A | NP_001129586.1:n.1135+14G>A | |
| NM_001353193.2:c.1552+14G>A | NP_001340122.2:n.1552+14G>A | |
| NM_001353194.2:c.1324+14G>A | NP_001340123.1:n.1324+14G>A | |
| NM_001353195.2:c.1135+14G>A | NP_001340124.1:n.1135+14G>A | |
| NM_001353196.2:c.1396+14G>A | NP_001340125.1:n.1396+14G>A | |
| NM_001353197.2:c.1390+14G>A | NP_001340126.2:n.1390+14G>A | |
| NM_001353198.2:c.1390+14G>A | NP_001340127.2:n.1390+14G>A | |
| NM_001353199.2:c.1201+14G>A | NP_001340128.2:n.1201+14G>A | |
| NM_001353200.2:c.1030+14G>A | NP_001340129.1:n.1030+14G>A | |
| NM_001374689.1:c.1474+14G>A | NP_001361618.1:n.1474+14G>A | |
| NM_001374690.1:c.1365+434G>A | NP_001361619.1:n.1365+434G>A | |
| NM_001374691.1:c.1135+14G>A | NP_001361620.1:n.1135+14G>A | |
| NM_001374692.1:c.1135+14G>A | NP_001361621.1:n.1135+14G>A | |
| NM_001374693.1:c.1135+14G>A | NP_001361622.1:n.1135+14G>A | |
| NM_001374695.1:c.1096+14G>A | NP_001361624.1:n.1096+14G>A | |
| NM_007171.4:c.1552+14G>A | NP_009102.4:n.1552+14G>A | |
| NR_148391.2:n.1520+14G>A | ||
| NR_148392.2:n.1738+14G>A | ||
| NR_148393.2:n.1659+14G>A | ||
| NR_148394.2:n.1413+14G>A | ||
| NR_148395.2:n.1811+14G>A | ||
| NR_148396.2:n.1445+14G>A | ||
| NR_148397.2:n.1570+14G>A | ||
| NR_148398.2:n.1525+14G>A | ||
| NR_148399.2:n.2051+14G>A | ||
| NR_148400.2:n.1650+14G>A |