Linked Data
ClinVar Variation Id:
310816
dbSNP Id:
rs201379287
ExAC:
12:990934 C / T
gnomAD v2:
12-990934-C-T
gnomAD v3:
12-881768-C-T
gnomAD v4:
12-881768-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.881768C>T , CM000674.2:g.881768C>T | GRCh38 |
| NC_000012.11:g.990934C>T , CM000674.1:g.990934C>T | GRCh37 |
| NC_000012.10:g.861195C>T | NCBI36 |
| NG_007984.2:g.133710C>T | |
| NG_007984.3:g.133710C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315939.11:c.3188C>T MANE Select | ENSP00000313059.6:p.Thr1063Ile | |
| ENST00000340908.9:c.3944C>T MANE Plus Clinical | ENSP00000341292.5:p.Thr1315Ile | |
| ENST00000674810.1:n.3785C>T | ||
| ENST00000675236.1:n.2083C>T | ||
| ENST00000675631.1:c.1967C>T | ENSP00000502415.1:p.Thr656Ile | |
| ENST00000676347.1:c.635C>T | ENSP00000501875.1:p.Thr212Ile | |
| ENST00000315939.10:c.3188C>T | ENSP00000313059.6:p.Thr1063Ile | |
| ENST00000340908.8:c.3944C>T | ENSP00000341292.5:p.Thr1315Ile | |
| ENST00000530271.6:c.4427C>T | ENSP00000433548.3:p.Thr1476Ile | |
| ENST00000534872.1:c.5C>T | ENSP00000446253.1:p.Thr2Ile | |
| ENST00000535572.5:c.2447C>T | ENSP00000441972.1:p.Thr816Ile | |
| ENST00000537687.5:c.3968C>T | ENSP00000444465.1:p.Thr1323Ile | |
| ENST00000542543.1:n.424C>T | ||
| ENST00000544965.5:c.417C>T | ||
| ENST00000545055.1:n.298C>T | ||
| NM_001184985.1:c.3968C>T | NP_001171914.1:p.Thr1323Ile | |
| NM_014823.2:c.2447C>T | NP_055638.2:p.Thr816Ile | |
| NM_018979.3:c.3188C>T | NP_061852.3:p.Thr1063Ile | |
| NM_213655.4:c.3944C>T | NP_998820.3:p.Thr1315Ile | |
| XM_006719003.1:c.3185C>T | XP_006719066.1:p.Thr1062Ile | |
| XM_011520997.1:c.4427C>T | XP_011519299.1:p.Thr1476Ile | |
| XM_011520998.1:c.4424C>T | XP_011519300.1:p.Thr1475Ile | |
| XM_011520999.1:c.4427C>T | XP_011519301.1:p.Thr1476Ile | |
| XM_011521000.1:c.4427C>T | XP_011519302.1:p.Thr1476Ile | |
| XM_011521001.1:c.4148C>T | XP_011519303.1:p.Thr1383Ile | |
| XM_011521002.1:c.3965C>T | XP_011519304.1:p.Thr1322Ile | |
| XM_011521003.1:c.3689C>T | XP_011519305.1:p.Thr1230Ile | |
| XM_011521004.1:c.3686C>T | XP_011519306.1:p.Thr1229Ile | |
| XM_011521005.1:c.3206C>T | XP_011519307.1:p.Thr1069Ile | |
| XM_011521006.1:c.3104C>T | XP_011519308.1:p.Thr1035Ile | |
| XM_011521007.1:c.3101C>T | XP_011519309.1:p.Thr1034Ile | |
| XM_011521008.1:c.2366C>T | XP_011519310.1:p.Thr789Ile | |
| XM_011521009.1:c.2363C>T | XP_011519311.1:p.Thr788Ile | |
| XM_006719003.2:c.3185C>T | XP_006719066.1:p.Thr1062Ile | |
| XM_011520997.3:c.4427C>T | XP_011519299.1:p.Thr1476Ile | |
| XM_011520998.2:c.4424C>T | XP_011519300.1:p.Thr1475Ile | |
| XM_011520999.2:c.4427C>T | XP_011519301.1:p.Thr1476Ile | |
| XM_011521000.2:c.4427C>T | XP_011519302.1:p.Thr1476Ile | |
| XM_011521001.2:c.4148C>T | XP_011519303.1:p.Thr1383Ile | |
| XM_011521002.2:c.3965C>T | XP_011519304.1:p.Thr1322Ile | |
| XM_011521003.2:c.3689C>T | XP_011519305.1:p.Thr1230Ile | |
| XM_011521004.2:c.3686C>T | XP_011519306.1:p.Thr1229Ile | |
| XM_011521005.2:c.3206C>T | XP_011519307.1:p.Thr1069Ile | |
| XM_011521006.2:c.3104C>T | XP_011519308.1:p.Thr1035Ile | |
| XM_011521007.2:c.3101C>T | XP_011519309.1:p.Thr1034Ile | |
| XM_011521008.2:c.2366C>T | XP_011519310.1:p.Thr789Ile | |
| XM_011521009.2:c.2363C>T | XP_011519311.1:p.Thr788Ile | |
| XM_017019834.1:c.2726C>T | XP_016875323.1:p.Thr909Ile | |
| XM_017019835.1:c.2645C>T | XP_016875324.1:p.Thr882Ile | |
| XM_017019836.1:c.2642C>T | XP_016875325.1:p.Thr881Ile | |
| XM_017019837.1:c.2450C>T | XP_016875326.1:p.Thr817Ile | |
| XM_017019838.1:c.2447C>T | XP_016875327.1:p.Thr816Ile | |
| XM_017019839.1:c.2366C>T | XP_016875328.1:p.Thr789Ile | |
| NM_018979.4:c.3188C>T MANE Select | NP_061852.3:p.Thr1063Ile | |
| NM_014823.3:c.2447C>T | NP_055638.2:p.Thr816Ile | |
| NM_001184985.2:c.3968C>T | NP_001171914.1:p.Thr1323Ile | |
| NM_213655.5:c.3944C>T MANE Plus Clinical | NP_998820.3:p.Thr1315Ile |