Linked Data
dbSNP Id:
rs765733307
ExAC:
10:88820405 A / C
gnomAD v2:
10-88820405-A-C
gnomAD v3:
10-87060648-A-C
gnomAD v4:
10-87060648-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87060648A>C , CM000672.2:g.87060648A>C | GRCh38 |
| NC_000010.10:g.88820405A>C , CM000672.1:g.88820405A>C | GRCh37 |
| NC_000010.9:g.88810385A>C | NCBI36 |
| NG_013010.1:g.39372T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474574.2:n.2772+40T>G | ||
| ENST00000487058.2:n.538T>G | ||
| ENST00000681987.1:n.1035+40T>G | ||
| ENST00000681988.1:c.696+40T>G | ENSP00000507316.1:n.696+40T>G | |
| ENST00000682396.1:c.1188+40T>G | ENSP00000506764.1:n.1188+40T>G | |
| ENST00000682507.1:c.696+40T>G | ENSP00000508098.1:n.696+40T>G | |
| ENST00000682622.1:c.1477+40T>G | ENSP00000506732.1:n.1477+40T>G | |
| ENST00000682833.1:c.1032+40T>G | ||
| ENST00000683022.1:c.1218+40T>G | ||
| ENST00000683256.1:c.696+40T>G | ENSP00000507901.1:n.696+40T>G | |
| ENST00000683269.1:c.696+40T>G | ENSP00000508107.1:n.696+40T>G | |
| ENST00000683647.1:n.4531+40T>G | ||
| ENST00000683783.1:c.696+40T>G | ENSP00000507881.1:n.696+40T>G | |
| ENST00000683813.1:n.925+40T>G | ||
| ENST00000684032.1:c.1052+40T>G | ENSP00000506969.1:n.1052+40T>G | |
| ENST00000684201.1:c.922-407T>G | ENSP00000507887.1:n.922-407T>G | |
| ENST00000684338.1:c.1197+40T>G | ENSP00000507457.1:n.1197+40T>G | |
| ENST00000684372.1:c.696+40T>G | ENSP00000508244.1:n.696+40T>G | |
| ENST00000684434.1:c.668+40T>G | ||
| ENST00000684546.1:c.696+40T>G | ENSP00000507729.1:n.696+40T>G | |
| ENST00000684690.1:n.1018T>G | ||
| ENST00000684699.1:n.3370T>G | ||
| ENST00000277865.5:c.1197+40T>G MANE Select | ENSP00000277865.4:n.1197+40T>G | |
| ENST00000277865.4:c.1197+40T>G | ENSP00000277865.4:n.1197+40T>G | |
| ENST00000465164.1:n.316T>G | ||
| NM_005271.3:c.1197+40T>G | NP_005262.1:n.1197+40T>G | |
| XM_011539668.1:c.696+40T>G | XP_011537970.1:n.696+40T>G | |
| XM_011539669.1:c.696+40T>G | XP_011537971.1:n.696+40T>G | |
| NM_001318900.1:c.798+40T>G | NP_001305829.1:n.798+40T>G | |
| NM_001318901.1:c.696+40T>G | NP_001305830.1:n.696+40T>G | |
| NM_001318902.1:c.696+40T>G | NP_001305831.1:n.696+40T>G | |
| NM_001318904.1:c.696+40T>G | NP_001305833.1:n.696+40T>G | |
| NM_001318905.1:c.696+40T>G | NP_001305834.1:n.696+40T>G | |
| NM_001318906.1:c.696+40T>G | NP_001305835.1:n.696+40T>G | |
| NM_005271.4:c.1197+40T>G | NP_005262.1:n.1197+40T>G | |
| NM_005271.5:c.1197+40T>G MANE Select | NP_005262.1:n.1197+40T>G | |
| NM_001318904.2:c.696+40T>G | NP_001305833.1:n.696+40T>G | |
| NM_001318905.2:c.696+40T>G | NP_001305834.1:n.696+40T>G | |
| NM_001318906.2:c.696+40T>G | NP_001305835.1:n.696+40T>G |