Linked Data
ClinVar Variation Id:
133164
ClinVar RCV Id:
RCV000119661
dbSNP Id:
rs118192177
ERepo:
CA024620/MONDO:0007783/012
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38496283C>G , CM000681.2:g.38496283C>G | GRCh38 |
| NC_000019.9:g.38986923C>G , CM000681.1:g.38986923C>G | GRCh37 |
| NC_000019.8:g.43678763C>G | NCBI36 |
| NG_008866.1:g.67584C>G , LRG_766:g.67584C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599547.6:c.6617C>G | ENSP00000471601.2:p.Thr2206Arg | |
| ENST00000359596.8:c.6617C>G MANE Select | ENSP00000352608.2:p.Thr2206Arg | |
| ENST00000355481.8:c.6617C>G | ENSP00000347667.3:p.Thr2206Arg | |
| ENST00000359596.7:c.6617C>G | ENSP00000352608.2:p.Thr2206Arg | |
| ENST00000360985.7:c.6614C>G | ENSP00000354254.4:p.Thr2205Arg | |
| ENST00000594335.5:c.69C>G | ||
| NM_000540.2:c.6617C>G , LRG_766t1:c.6617C>G | NP_000531.2:p.Thr2206Arg | |
| NM_001042723.1:c.6617C>G | NP_001036188.1:p.Thr2206Arg | |
| XM_006723317.1:c.6617C>G | XP_006723380.1:p.Thr2206Arg | |
| XM_006723319.1:c.6617C>G | XP_006723382.1:p.Thr2206Arg | |
| XM_011527204.1:c.6614C>G | XP_011525506.1:p.Thr2205Arg | |
| XM_011527205.1:c.6617C>G | XP_011525507.1:p.Thr2206Arg | |
| XM_006723317.2:c.6617C>G | XP_006723380.1:p.Thr2206Arg | |
| XM_006723319.2:c.6617C>G | XP_006723382.1:p.Thr2206Arg | |
| XM_011527205.2:c.6617C>G | XP_011525507.1:p.Thr2206Arg | |
| XR_001753735.1:n.6700C>G | ||
| NM_000540.3:c.6617C>G MANE Select | NP_000531.2:p.Thr2206Arg | |
| NM_001042723.2:c.6617C>G | NP_001036188.1:p.Thr2206Arg |