Linked Data
ClinVar Variation Id:
40641
ClinVar RCV Id:
RCV000038509
RCV000159147
RCV001143269
RCV001143267
RCV001703446
RCV001813278
RCV002453283
RCV003904889
dbSNP Id:
rs150565592
ExAC:
2:39294873 T / C
gnomAD v2:
2-39294873-T-C
gnomAD v3:
2-39067732-T-C
gnomAD v4:
2-39067732-T-C
ERepo:
CA136074/MONDO:0021060/004
PubMed:
PMID:21387466
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39067732T>C , CM000664.2:g.39067732T>C | GRCh38 |
| NC_000002.11:g.39294873T>C , CM000664.1:g.39294873T>C | GRCh37 |
| NC_000002.10:g.39148377T>C | NCBI36 |
| NG_007530.1:g.57732A>G , LRG_754:g.57732A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461545.2:n.136A>G | ||
| ENST00000685782.1:n.947A>G | ||
| ENST00000689668.1:n.116A>G | ||
| ENST00000690679.1:c.209A>G | ||
| ENST00000690876.1:c.109A>G | ENSP00000508955.1:p.Thr37Ala | |
| ENST00000691229.1:c.109A>G | ENSP00000510437.1:p.Thr37Ala | |
| ENST00000692089.1:c.109A>G | ENSP00000508626.1:p.Thr37Ala | |
| ENST00000402219.8:c.109A>G MANE Select | ENSP00000384675.2:p.Thr37Ala | |
| ENST00000395038.6:c.109A>G | ENSP00000378479.2:p.Thr37Ala | |
| ENST00000402219.6:c.109A>G | ENSP00000384675.2:p.Thr37Ala | |
| ENST00000426016.5:c.109A>G | ENSP00000387784.1:p.Thr37Ala | |
| ENST00000451331.1:c.-63A>G | ENSP00000393899.1:n.-63A>G | |
| NM_005633.3:c.109A>G , LRG_754t1:c.109A>G | NP_005624.2:p.Thr37Ala | |
| XM_005264515.3:c.109A>G | XP_005264572.1:p.Thr37Ala | |
| XM_011533060.1:c.202A>G | XP_011531362.1:p.Thr68Ala | |
| XM_011533061.1:c.202A>G | XP_011531363.1:p.Thr68Ala | |
| XM_011533062.1:c.88A>G | XP_011531364.1:p.Thr30Ala | |
| XM_011533063.1:c.85A>G | XP_011531365.1:p.Thr29Ala | |
| XM_011533064.1:c.-63A>G | XP_011531366.1:n.-63A>G | |
| XM_011533065.1:c.202A>G | XP_011531367.1:p.Thr68Ala | |
| XM_005264515.4:c.109A>G | XP_005264572.1:p.Thr37Ala | |
| XM_011533062.2:c.88A>G | XP_011531364.1:p.Thr30Ala | |
| XM_011533064.2:c.-63A>G | XP_011531366.1:n.-63A>G | |
| NM_001382394.1:c.88A>G | NP_001369323.1:p.Thr30Ala | |
| NM_001382395.1:c.109A>G | NP_001369324.1:p.Thr37Ala | |
| NM_005633.4:c.109A>G MANE Select | NP_005624.2:p.Thr37Ala |