Linked Data
ClinVar Variation Id:
95457
dbSNP Id:
rs58896330
ExAC:
9:134393939 C / T
gnomAD v2:
9-134393939-C-T
gnomAD v3:
9-131518552-C-T
gnomAD v4:
9-131518552-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131518552C>T , CM000671.2:g.131518552C>T | GRCh38 |
| NC_000009.11:g.134393939C>T , CM000671.1:g.134393939C>T | GRCh37 |
| NC_000009.10:g.133383760C>T | NCBI36 |
| NG_008896.1:g.20651C>T | |
| NG_008896.2:g.20651C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1203+15C>T | ENSP00000343034.7:n.1203+15C>T | |
| ENST00000404875.7:n.1905+15C>T | ||
| ENST00000423007.6:c.1422+15C>T | ENSP00000404119.2:n.1422+15C>T | |
| ENST00000677295.2:c.*1709+15C>T | ENSP00000504346.2:n.*1709+15C>T | |
| ENST00000678264.2:c.*1548+15C>T | ENSP00000503157.2:n.*1548+15C>T | |
| ENST00000682070.1:n.1830+15C>T | ||
| ENST00000682539.1:c.303+15C>T | ||
| ENST00000682813.1:n.1630+15C>T | ||
| ENST00000683110.1:n.93+15C>T | ||
| ENST00000683392.1:n.4112+15C>T | ||
| ENST00000683712.1:n.1770+15C>T | ||
| ENST00000683900.1:n.3265+15C>T | ||
| ENST00000684062.1:n.2031+15C>T | ||
| ENST00000684579.1:n.3211+15C>T | ||
| ENST00000684679.1:n.592+15C>T | ||
| ENST00000341012.12:c.1203+15C>T | ENSP00000343034.7:n.1203+15C>T | |
| ENST00000372220.5:c.234+15C>T | ENSP00000361294.5:n.234+15C>T | |
| ENST00000372228.9:c.1431+15C>T | ENSP00000361302.3:n.1431+15C>T | |
| ENST00000402686.8:c.1365+15C>T MANE Select | ENSP00000385797.4:n.1365+15C>T | |
| ENST00000676640.1:c.1365+15C>T | ENSP00000503281.1:n.1365+15C>T | |
| ENST00000676803.1:c.540+15C>T | ENSP00000503093.1:n.540+15C>T | |
| ENST00000676835.1:c.*580+15C>T | ENSP00000502911.1:n.*580+15C>T | |
| ENST00000677029.1:c.909+15C>T | ENSP00000502936.1:n.909+15C>T | |
| ENST00000677099.1:c.*1075+15C>T | ENSP00000504553.1:n.*1075+15C>T | |
| ENST00000677216.1:c.1014+15C>T | ENSP00000503772.1:n.1014+15C>T | |
| ENST00000677221.1:n.390+15C>T | ||
| ENST00000677295.1:c.*742+15C>T | ENSP00000504346.1:n.*742+15C>T | |
| ENST00000677444.1:c.1171+15C>T | ||
| ENST00000677586.1:n.846+15C>T | ||
| ENST00000677626.1:c.1014+15C>T | ENSP00000503552.1:n.1014+15C>T | |
| ENST00000677677.1:n.1325+15C>T | ||
| ENST00000677853.1:c.*373+15C>T | ENSP00000503488.1:n.*373+15C>T | |
| ENST00000677983.1:n.454+15C>T | ||
| ENST00000678202.1:n.385+15C>T | ||
| ENST00000678264.1:c.*742+15C>T | ENSP00000503157.1:n.*742+15C>T | |
| ENST00000678303.1:c.1275+15C>T | ENSP00000503696.1:n.1275+15C>T | |
| ENST00000678366.1:c.*1614+15C>T | ENSP00000504353.1:n.*1614+15C>T | |
| ENST00000678546.1:c.*1310+15C>T | ENSP00000503062.1:n.*1310+15C>T | |
| ENST00000678548.1:c.*1437+15C>T | ENSP00000503934.1:n.*1437+15C>T | |
| ENST00000678626.1:n.1062+15C>T | ||
| ENST00000678733.1:c.446+15C>T | ||
| ENST00000678739.1:c.*1691+15C>T | ENSP00000503806.1:n.*1691+15C>T | |
| ENST00000678795.1:n.452+15C>T | ||
| ENST00000678833.1:c.*812+15C>T | ENSP00000503893.1:n.*812+15C>T | |
| ENST00000678942.1:c.545+15C>T | ENSP00000504690.1:n.545+15C>T | |
| ENST00000679023.1:c.1203+15C>T | ENSP00000503718.1:n.1203+15C>T | |
| ENST00000679076.1:c.984+15C>T | ||
| ENST00000679111.1:c.1365+15C>T | ENSP00000504257.1:n.1365+15C>T | |
| ENST00000679189.1:c.1014+15C>T | ENSP00000503356.1:n.1014+15C>T | |
| ENST00000341012.11:c.1203+15C>T | ENSP00000343034.7:n.1203+15C>T | |
| ENST00000372220.4:c.228+15C>T | ENSP00000361294.4:n.228+15C>T | |
| ENST00000372228.7:c.1431+15C>T | ENSP00000361302.3:n.1431+15C>T | |
| ENST00000402686.7:c.1365+15C>T | ENSP00000385797.3:n.1365+15C>T | |
| ENST00000404875.6:c.1014+15C>T | ENSP00000384531.2:n.1014+15C>T | |
| ENST00000423007.5:c.1365+15C>T | ENSP00000404119.1:n.1365+15C>T | |
| ENST00000485278.5:n.1920+15C>T | ||
| NM_001077365.1:c.1365+15C>T | NP_001070833.1:n.1365+15C>T | |
| NM_001077366.1:c.1203+15C>T | NP_001070834.1:n.1203+15C>T | |
| NM_001136113.1:c.1365+15C>T | NP_001129585.1:n.1365+15C>T | |
| NM_001136114.1:c.1014+15C>T | NP_001129586.1:n.1014+15C>T | |
| NM_007171.3:c.1431+15C>T | NP_009102.3:n.1431+15C>T | |
| XM_005272156.1:c.1431+15C>T | XP_005272213.1:n.1431+15C>T | |
| XM_005272158.1:c.1269+15C>T | XP_005272215.1:n.1269+15C>T | |
| XM_005272159.1:c.1080+15C>T | XP_005272216.1:n.1080+15C>T | |
| XM_005272162.1:c.234+15C>T | XP_005272219.1:n.234+15C>T | |
| XM_006716932.1:c.1080+15C>T | XP_006716995.1:n.1080+15C>T | |
| XM_011518140.1:c.1284+15C>T | XP_011516442.1:n.1284+15C>T | |
| XM_011518141.1:c.1218+15C>T | XP_011516443.1:n.1218+15C>T | |
| XM_011518142.1:c.1122+15C>T | XP_011516444.1:n.1122+15C>T | |
| XM_011518143.1:c.1116+15C>T | XP_011516445.1:n.1116+15C>T | |
| XM_011518144.1:c.1431+15C>T | XP_011516446.1:n.1431+15C>T | |
| XM_011518145.1:c.975+15C>T | XP_011516447.1:n.975+15C>T | |
| XM_011518146.1:c.1116+15C>T | XP_011516448.1:n.1116+15C>T | |
| XM_011518147.1:c.303+15C>T | XP_011516449.1:n.303+15C>T | |
| XR_929703.1:n.1607+15C>T | ||
| NM_001353193.1:c.1431+15C>T | NP_001340122.1:n.1431+15C>T | |
| NM_001353194.1:c.1203+15C>T | NP_001340123.1:n.1203+15C>T | |
| NM_001353195.1:c.1014+15C>T | NP_001340124.1:n.1014+15C>T | |
| NM_001353196.1:c.1275+15C>T | NP_001340125.1:n.1275+15C>T | |
| NM_001353197.1:c.1269+15C>T | NP_001340126.1:n.1269+15C>T | |
| NM_001353198.1:c.1269+15C>T | NP_001340127.1:n.1269+15C>T | |
| NM_001353199.1:c.1080+15C>T | NP_001340128.1:n.1080+15C>T | |
| NM_001353200.1:c.909+15C>T | NP_001340129.1:n.909+15C>T | |
| NR_148391.1:n.1415+15C>T | ||
| NR_148392.1:n.1633+15C>T | ||
| NR_148393.1:n.1415+15C>T | ||
| NR_148394.1:n.1308+15C>T | ||
| NR_148395.1:n.1567+15C>T | ||
| NR_148396.1:n.1201+15C>T | ||
| NR_148397.1:n.1465+15C>T | ||
| NR_148398.1:n.1420+15C>T | ||
| NR_148399.1:n.1807+15C>T | ||
| NR_148400.1:n.1406+15C>T | ||
| XM_005272162.3:c.234+15C>T | XP_005272219.1:n.234+15C>T | |
| XM_006716932.2:c.1080+15C>T | XP_006716995.1:n.1080+15C>T | |
| XM_011518140.2:c.1284+15C>T | XP_011516442.1:n.1284+15C>T | |
| XM_011518141.2:c.1218+15C>T | XP_011516443.1:n.1218+15C>T | |
| XM_011518142.2:c.1122+15C>T | XP_011516444.1:n.1122+15C>T | |
| XM_011518143.2:c.1116+15C>T | XP_011516445.1:n.1116+15C>T | |
| XM_011518145.2:c.975+15C>T | XP_011516447.1:n.975+15C>T | |
| XM_017014205.2:c.234+15C>T | XP_016869694.1:n.234+15C>T | |
| XM_024447380.1:c.234+15C>T | XP_024303148.1:n.234+15C>T | |
| XM_024447381.1:c.540+15C>T | XP_024303149.1:n.540+15C>T | |
| XM_024447382.1:c.234+15C>T | XP_024303150.1:n.234+15C>T | |
| XR_001746160.2:n.1535+15C>T | ||
| XR_001746162.2:n.1601+15C>T | ||
| XR_001746164.1:n.1318+15C>T | ||
| XR_001746166.2:n.1752+15C>T | ||
| NM_001077365.2:c.1365+15C>T MANE Select | NP_001070833.1:n.1365+15C>T | |
| NM_001077366.2:c.1203+15C>T | NP_001070834.1:n.1203+15C>T | |
| NM_001136113.2:c.1365+15C>T | NP_001129585.1:n.1365+15C>T | |
| NM_001136114.2:c.1014+15C>T | NP_001129586.1:n.1014+15C>T | |
| NM_001353193.2:c.1431+15C>T | NP_001340122.2:n.1431+15C>T | |
| NM_001353194.2:c.1203+15C>T | NP_001340123.1:n.1203+15C>T | |
| NM_001353195.2:c.1014+15C>T | NP_001340124.1:n.1014+15C>T | |
| NM_001353196.2:c.1275+15C>T | NP_001340125.1:n.1275+15C>T | |
| NM_001353197.2:c.1269+15C>T | NP_001340126.2:n.1269+15C>T | |
| NM_001353198.2:c.1269+15C>T | NP_001340127.2:n.1269+15C>T | |
| NM_001353199.2:c.1080+15C>T | NP_001340128.2:n.1080+15C>T | |
| NM_001353200.2:c.909+15C>T | NP_001340129.1:n.909+15C>T | |
| NM_001374689.1:c.1353+15C>T | NP_001361618.1:n.1353+15C>T | |
| NM_001374690.1:c.1365+15C>T | NP_001361619.1:n.1365+15C>T | |
| NM_001374691.1:c.1014+15C>T | NP_001361620.1:n.1014+15C>T | |
| NM_001374692.1:c.1014+15C>T | NP_001361621.1:n.1014+15C>T | |
| NM_001374693.1:c.1014+15C>T | NP_001361622.1:n.1014+15C>T | |
| NM_001374695.1:c.975+15C>T | NP_001361624.1:n.975+15C>T | |
| NM_007171.4:c.1431+15C>T | NP_009102.4:n.1431+15C>T | |
| NR_148391.2:n.1399+15C>T | ||
| NR_148392.2:n.1617+15C>T | ||
| NR_148393.2:n.1399+15C>T | ||
| NR_148394.2:n.1292+15C>T | ||
| NR_148395.2:n.1551+15C>T | ||
| NR_148396.2:n.1185+15C>T | ||
| NR_148397.2:n.1449+15C>T | ||
| NR_148398.2:n.1404+15C>T | ||
| NR_148399.2:n.1791+15C>T | ||
| NR_148400.2:n.1390+15C>T |