Linked Data
ClinVar Variation Id:
217726
dbSNP Id:
rs863225235
gnomAD v2:
8-94794672-C-A
gnomAD v3:
8-93782444-C-A
gnomAD v4:
8-93782444-C-A
PubMed:
PMID:26092869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93782444C>A , CM000670.2:g.93782444C>A | GRCh38 |
| NC_000008.10:g.94794672C>A , CM000670.1:g.94794672C>A | GRCh37 |
| NC_000008.9:g.94863848C>A | NCBI36 |
| NG_009190.1:g.32601C>A , LRG_688:g.32601C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.1115C>A | ENSP00000314488.4:p.Thr372Lys | |
| ENST00000409623.8:c.1115C>A | ENSP00000386966.4:p.Thr372Lys | |
| ENST00000452276.6:c.1115C>A | ENSP00000388671.2:p.Thr372Lys | |
| ENST00000453906.6:c.407-3779C>A | ENSP00000403035.2:n.407-3779C>A | |
| ENST00000520680.2:c.1115C>A | ENSP00000428785.2:p.Thr372Lys | |
| ENST00000521517.6:c.1115C>A | ENSP00000430740.2:p.Thr372Lys | |
| ENST00000681998.1:c.936C>A | ENSP00000506773.1:n.936C>A | |
| ENST00000682036.1:c.407-3779C>A | ENSP00000508390.1:n.407-3779C>A | |
| ENST00000682577.1:c.1045C>A | ENSP00000506963.1:n.1045C>A | |
| ENST00000682624.1:c.*689C>A | ENSP00000508343.1:n.*689C>A | |
| ENST00000682700.1:c.1115C>A | ENSP00000507627.1:p.Thr372Lys | |
| ENST00000682744.1:n.653C>A | ||
| ENST00000682804.1:n.938C>A | ||
| ENST00000682837.1:c.761C>A | ENSP00000507920.1:n.761C>A | |
| ENST00000682935.1:n.2675C>A | ||
| ENST00000682984.1:c.776C>A | ENSP00000507209.1:p.Thr259Lys | |
| ENST00000683078.1:c.870C>A | ENSP00000506796.1:n.870C>A | |
| ENST00000683223.1:c.847C>A | ENSP00000507685.1:n.847C>A | |
| ENST00000683238.1:n.2496C>A | ||
| ENST00000683249.1:n.2712C>A | ||
| ENST00000683336.1:c.936C>A | ENSP00000507695.1:n.936C>A | |
| ENST00000683362.1:c.776C>A | ENSP00000506985.1:p.Thr259Lys | |
| ENST00000683850.1:n.1038C>A | ||
| ENST00000683919.1:c.1045C>A | ENSP00000507617.1:n.1045C>A | |
| ENST00000683953.1:c.1026C>A | ENSP00000508375.1:n.1026C>A | |
| ENST00000684023.1:c.1249C>A | ENSP00000507461.1:n.1249C>A | |
| ENST00000684064.1:c.806C>A | ENSP00000508192.1:p.Thr269Lys | |
| ENST00000684089.1:n.2665C>A | ||
| ENST00000684149.1:c.*451C>A | ENSP00000507943.1:n.*451C>A | |
| ENST00000684416.1:n.1074C>A | ||
| ENST00000684540.1:c.1045C>A | ENSP00000507987.1:n.1045C>A | |
| ENST00000453321.8:c.1115C>A MANE Select | ENSP00000389998.3:p.Thr372Lys | |
| ENST00000323130.7:c.1085C>A | ENSP00000314488.3:p.Thr362Lys | |
| ENST00000409623.7:c.872C>A | ENSP00000386966.3:p.Thr291Lys | |
| ENST00000425545.2:n.562C>A | ||
| ENST00000452276.5:c.806C>A | ENSP00000388671.1:p.Thr269Lys | |
| ENST00000453321.7:c.1115C>A | ENSP00000389998.3:p.Thr372Lys | |
| ENST00000453906.5:c.407-3779C>A | ENSP00000403035.1:n.407-3779C>A | |
| ENST00000474944.5:n.427-3779C>A | ||
| NM_001142301.1:c.872C>A , LRG_688t2:c.872C>A | NP_001135773.1:p.Thr291Lys | |
| NM_153704.5:c.1115C>A , LRG_688t1:c.1115C>A | NP_714915.3:p.Thr372Lys | |
| NR_024522.1:n.1186C>A | ||
| XM_006716686.2:c.812C>A | XP_006716749.1:p.Thr271Lys | |
| XM_006716687.2:c.515C>A | XP_006716750.1:p.Thr172Lys | |
| XM_011517363.1:c.407-3779C>A | XP_011515665.1:n.407-3779C>A | |
| XR_428387.1:n.1173C>A | ||
| XR_928360.1:n.1173C>A | ||
| XR_928361.1:n.1173C>A | ||
| XR_928362.1:n.1173C>A | ||
| XM_006716686.4:c.812C>A | XP_006716749.1:p.Thr271Lys | |
| XM_011517363.3:c.407-3779C>A | XP_011515665.1:n.407-3779C>A | |
| XM_024447326.1:c.461C>A | XP_024303094.1:p.Thr154Lys | |
| XR_001745619.2:n.1156C>A | ||
| XR_428387.2:n.1156C>A | ||
| XR_928360.3:n.1156C>A | ||
| XR_928362.3:n.1156C>A | ||
| NM_153704.6:c.1115C>A MANE Select | NP_714915.3:p.Thr372Lys | |
| NR_024522.2:n.1136C>A |