Linked Data
ClinVar Variation Id:
133058
dbSNP Id:
rs193922865
PubMed:
PMID:15731587
ERepo:
CA024110/MONDO:0018493/012
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38577942T>G , CM000681.2:g.38577942T>G | GRCh38 |
| NC_000019.9:g.39068582T>G , CM000681.1:g.39068582T>G | GRCh37 |
| NC_000019.8:g.43760422T>G | NCBI36 |
| NG_008866.1:g.149243T>G , LRG_766:g.149243T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.1133T>G | ||
| ENST00000688602.1:c.2530T>G | ||
| ENST00000689936.1:c.2502T>G | ||
| ENST00000359596.8:c.14197T>G MANE Select | ENSP00000352608.2:p.Tyr4733Asp | |
| ENST00000355481.8:c.14182T>G | ENSP00000347667.3:p.Tyr4728Asp | |
| ENST00000359596.7:c.14197T>G | ENSP00000352608.2:p.Tyr4733Asp | |
| ENST00000360985.7:c.14179T>G | ENSP00000354254.4:p.Tyr4727Asp | |
| NM_000540.2:c.14197T>G , LRG_766t1:c.14197T>G | NP_000531.2:p.Tyr4733Asp | |
| NM_001042723.1:c.14182T>G | NP_001036188.1:p.Tyr4728Asp | |
| XM_006723317.1:c.14179T>G | XP_006723380.1:p.Tyr4727Asp | |
| XM_006723319.1:c.14164T>G | XP_006723382.1:p.Tyr4722Asp | |
| XM_011527204.1:c.14194T>G | XP_011525506.1:p.Tyr4732Asp | |
| XM_011527205.1:c.14110T>G | XP_011525507.1:p.Tyr4704Asp | |
| XM_006723317.2:c.14179T>G | XP_006723380.1:p.Tyr4727Asp | |
| XM_006723319.2:c.14164T>G | XP_006723382.1:p.Tyr4722Asp | |
| XM_011527205.2:c.14110T>G | XP_011525507.1:p.Tyr4704Asp | |
| NM_000540.3:c.14197T>G MANE Select | NP_000531.2:p.Tyr4733Asp | |
| NM_001042723.2:c.14182T>G | NP_001036188.1:p.Tyr4728Asp |