Linked Data
ClinVar Variation Id:
372513
ClinVar RCV Id:
RCV000414348
RCV000465195
RCV001591049
RCV002467768
RCV002467769
RCV002488849
RCV004022159
dbSNP Id:
rs750296853
ExAC:
2:39213062 A / G
gnomAD v2:
2-39213062-A-G
gnomAD v3:
2-38985921-A-G
gnomAD v4:
2-38985921-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38985921A>G , CM000664.2:g.38985921A>G | GRCh38 |
| NC_000002.11:g.39213062A>G , CM000664.1:g.39213062A>G | GRCh37 |
| NC_000002.10:g.39066566A>G | NCBI36 |
| NG_007530.1:g.139543T>C , LRG_754:g.139543T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685279.1:c.2672T>C | ENSP00000509424.1:p.Ile891Thr | |
| ENST00000686849.1:n.696T>C | ||
| ENST00000690876.1:c.*1211T>C | ENSP00000508955.1:n.*1211T>C | |
| ENST00000692089.1:c.3399+1552T>C | ENSP00000508626.1:n.3399+1552T>C | |
| ENST00000692227.1:c.1162-558T>C | ENSP00000509138.1:n.1162-558T>C | |
| ENST00000402219.8:c.3905T>C MANE Select | ENSP00000384675.2:p.Ile1302Thr | |
| ENST00000395038.6:c.3860T>C | ENSP00000378479.2:p.Ile1287Thr | |
| ENST00000402219.6:c.3905T>C | ENSP00000384675.2:p.Ile1302Thr | |
| ENST00000426016.5:c.3905T>C | ENSP00000387784.1:p.Ile1302Thr | |
| NM_005633.3:c.3905T>C , LRG_754t1:c.3905T>C | NP_005624.2:p.Ile1302Thr | |
| XM_005264515.3:c.3860T>C | XP_005264572.1:p.Ile1287Thr | |
| XM_011533060.1:c.3998T>C | XP_011531362.1:p.Ile1333Thr | |
| XM_011533061.1:c.3953T>C | XP_011531363.1:p.Ile1318Thr | |
| XM_011533062.1:c.3884T>C | XP_011531364.1:p.Ile1295Thr | |
| XM_011533063.1:c.3881T>C | XP_011531365.1:p.Ile1294Thr | |
| XM_011533064.1:c.3734T>C | XP_011531366.1:p.Ile1245Thr | |
| XM_011533065.1:c.3604-558T>C | XP_011531367.1:n.3604-558T>C | |
| XM_011533066.1:c.2840T>C | XP_011531368.1:p.Ile947Thr | |
| XM_005264515.4:c.3860T>C | XP_005264572.1:p.Ile1287Thr | |
| XM_011533062.2:c.3884T>C | XP_011531364.1:p.Ile1295Thr | |
| XM_011533064.2:c.3734T>C | XP_011531366.1:p.Ile1245Thr | |
| NM_001382394.1:c.3884T>C | NP_001369323.1:p.Ile1295Thr | |
| NM_001382395.1:c.3860T>C | NP_001369324.1:p.Ile1287Thr | |
| NM_005633.4:c.3905T>C MANE Select | NP_005624.2:p.Ile1302Thr |