Linked Data
ClinVar Variation Id:
1378
ClinVar RCV Id:
RCV000001445
RCV000001446
RCV000995902
RCV000821785
RCV001310635
RCV001536092
RCV001804708
RCV003315221
dbSNP Id:
rs267607119
ExAC:
8:94821126 T / C
gnomAD v2:
8-94821126-T-C
gnomAD v3:
8-93808898-T-C
gnomAD v4:
8-93808898-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93808898T>C , CM000670.2:g.93808898T>C | GRCh38 |
| NC_000008.10:g.94821126T>C , CM000670.1:g.94821126T>C | GRCh37 |
| NC_000008.9:g.94890302T>C | NCBI36 |
| NG_009190.1:g.59055T>C , LRG_688:g.59055T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.2498T>C | ENSP00000314488.4:p.Ile833Thr | |
| ENST00000409623.8:c.2453T>C | ENSP00000386966.4:p.Ile818Thr | |
| ENST00000452276.6:c.2381T>C | ENSP00000388671.2:p.Ile794Thr | |
| ENST00000453906.6:c.1616T>C | ENSP00000403035.2:p.Ile539Thr | |
| ENST00000518896.2:c.789T>C | ENSP00000507992.1:n.789T>C | |
| ENST00000520680.2:c.2621T>C | ENSP00000428785.2:p.Ile874Thr | |
| ENST00000521517.6:c.2399T>C | ENSP00000430740.2:p.Ile800Thr | |
| ENST00000681998.1:c.2319T>C | ENSP00000506773.1:n.2319T>C | |
| ENST00000682036.1:c.1739T>C | ENSP00000508390.1:p.Ile580Thr | |
| ENST00000682577.1:c.2271T>C | ENSP00000506963.1:n.2271T>C | |
| ENST00000682624.1:c.*2072T>C | ENSP00000508343.1:n.*2072T>C | |
| ENST00000682700.1:c.2498T>C | ENSP00000507627.1:p.Ile833Thr | |
| ENST00000682744.1:n.2036T>C | ||
| ENST00000682804.1:n.2321T>C | ||
| ENST00000682837.1:c.1987T>C | ENSP00000507920.1:n.1987T>C | |
| ENST00000682935.1:n.4548T>C | ||
| ENST00000682984.1:c.2159T>C | ENSP00000507209.1:p.Ile720Thr | |
| ENST00000683078.1:c.2253T>C | ENSP00000506796.1:n.2253T>C | |
| ENST00000683223.1:c.2230T>C | ENSP00000507685.1:n.2230T>C | |
| ENST00000683238.1:n.3722T>C | ||
| ENST00000683249.1:n.4095T>C | ||
| ENST00000683336.1:c.2319T>C | ENSP00000507695.1:n.2319T>C | |
| ENST00000683362.1:c.2159T>C | ENSP00000506985.1:p.Ile720Thr | |
| ENST00000683850.1:n.2421T>C | ||
| ENST00000683919.1:c.2428T>C | ENSP00000507617.1:n.2428T>C | |
| ENST00000683953.1:c.2409T>C | ENSP00000508375.1:n.2409T>C | |
| ENST00000684023.1:c.2475T>C | ENSP00000507461.1:n.2475T>C | |
| ENST00000684064.1:c.2189T>C | ENSP00000508192.1:p.Ile730Thr | |
| ENST00000684089.1:n.4048T>C | ||
| ENST00000684149.1:c.*1677T>C | ENSP00000507943.1:n.*1677T>C | |
| ENST00000684343.1:c.695T>C | ENSP00000507591.1:p.Ile232Thr | |
| ENST00000684416.1:n.2457T>C | ||
| ENST00000684540.1:c.2428T>C | ENSP00000507987.1:n.2428T>C | |
| ENST00000453321.8:c.2498T>C MANE Select | ENSP00000389998.3:p.Ile833Thr | |
| ENST00000323130.7:c.2468T>C | ENSP00000314488.3:p.Ile823Thr | |
| ENST00000409623.7:c.2255T>C | ENSP00000386966.3:p.Ile752Thr | |
| ENST00000453321.7:c.2498T>C | ENSP00000389998.3:p.Ile833Thr | |
| ENST00000474944.5:n.1636T>C | ||
| ENST00000519845.5:n.1230T>C | ||
| NM_001142301.1:c.2255T>C , LRG_688t2:c.2255T>C | NP_001135773.1:p.Ile752Thr | |
| NM_153704.5:c.2498T>C , LRG_688t1:c.2498T>C | NP_714915.3:p.Ile833Thr | |
| NR_024522.1:n.2569T>C | ||
| XM_006716686.2:c.2195T>C | XP_006716749.1:p.Ile732Thr | |
| XM_006716687.2:c.1898T>C | XP_006716750.1:p.Ile633Thr | |
| XM_011517363.1:c.1616T>C | XP_011515665.1:p.Ile539Thr | |
| XR_428387.1:n.2556T>C | ||
| XR_928360.1:n.2556T>C | ||
| XR_928361.1:n.2556T>C | ||
| XR_928362.1:n.2556T>C | ||
| XM_006716686.4:c.2195T>C | XP_006716749.1:p.Ile732Thr | |
| XM_011517363.3:c.1616T>C | XP_011515665.1:p.Ile539Thr | |
| XM_024447326.1:c.1844T>C | XP_024303094.1:p.Ile615Thr | |
| XR_001745619.2:n.2539T>C | ||
| XR_428387.2:n.2539T>C | ||
| XR_928360.3:n.2539T>C | ||
| XR_928362.3:n.2539T>C | ||
| NM_153704.6:c.2498T>C MANE Select | NP_714915.3:p.Ile833Thr | |
| NR_024522.2:n.2519T>C |