Linked Data
ClinVar Variation Id:
1414034
ClinVar RCV Id:
RCV001930359
dbSNP Id:
rs1055279552
gnomAD v4:
20-45891954-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45891954T>C , CM000682.2:g.45891954T>C | GRCh38 |
| NC_000020.10:g.44520593T>C , CM000682.1:g.44520593T>C | GRCh37 |
| NC_000020.9:g.43954000T>C | NCBI36 |
| NG_008291.1:g.6003T>C | |
| NG_033108.1:g.4334A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480961.3:n.650T>C | ||
| ENST00000484855.4:n.283T>C | ||
| ENST00000493522.8:n.261T>C | ||
| ENST00000606066.3:n.650T>C | ||
| ENST00000606782.3:n.109T>C | ||
| ENST00000607187.3:n.650T>C | ||
| ENST00000607212.3:n.444T>C | ||
| ENST00000607814.7:n.410T>C | ||
| ENST00000677755.2:n.334T>C | ||
| ENST00000678622.2:n.650T>C | ||
| ENST00000678691.2:n.650T>C | ||
| ENST00000678988.2:n.1272T>C | ||
| ENST00000679053.2:n.650T>C | ||
| ENST00000679343.2:n.650T>C | ||
| ENST00000684198.1:n.650T>C | ||
| ENST00000372459.7:c.233T>C | ENSP00000361537.2:p.Val78Ala | |
| ENST00000372484.8:c.287T>C | ENSP00000361562.3:p.Val96Ala | |
| ENST00000419493.3:c.233T>C | ENSP00000408533.3:p.Val78Ala | |
| ENST00000480961.2:n.260T>C | ||
| ENST00000484855.3:n.283T>C | ||
| ENST00000493522.7:n.261T>C | ||
| ENST00000606066.2:n.298T>C | ||
| ENST00000606394.6:c.248+192T>C | ENSP00000475827.1:n.248+192T>C | |
| ENST00000606782.2:n.109T>C | ||
| ENST00000607187.2:n.164T>C | ||
| ENST00000607212.2:n.444T>C | ||
| ENST00000607482.6:c.233T>C | ENSP00000475524.2:p.Val78Ala | |
| ENST00000607814.6:n.410T>C | ||
| ENST00000646241.3:c.233T>C MANE Select | ENSP00000493613.2:p.Val78Ala | |
| ENST00000676526.1:c.287T>C | ENSP00000504209.1:p.Val96Ala | |
| ENST00000676597.1:c.233T>C | ENSP00000503904.1:p.Val78Ala | |
| ENST00000676657.1:c.233T>C | ENSP00000504158.1:p.Val78Ala | |
| ENST00000676967.1:c.233T>C | ENSP00000502866.1:p.Val78Ala | |
| ENST00000677394.1:c.287T>C | ENSP00000504790.1:p.Val96Ala | |
| ENST00000677525.1:c.*56T>C | ENSP00000504197.1:n.*56T>C | |
| ENST00000677755.1:n.334T>C | ||
| ENST00000678025.1:c.233T>C | ENSP00000503463.1:p.Val78Ala | |
| ENST00000678078.1:c.287T>C | ENSP00000502993.1:p.Val96Ala | |
| ENST00000678217.1:c.233T>C | ENSP00000504109.1:p.Val78Ala | |
| ENST00000678331.1:c.233T>C | ENSP00000504524.1:p.Val78Ala | |
| ENST00000678443.1:c.233T>C | ENSP00000504006.1:p.Val78Ala | |
| ENST00000678512.1:n.423T>C | ||
| ENST00000678622.1:n.278T>C | ||
| ENST00000678691.1:n.111T>C | ||
| ENST00000678939.1:c.233T>C | ENSP00000503404.1:p.Val78Ala | |
| ENST00000678988.1:n.1272T>C | ||
| ENST00000679053.1:n.278T>C | ||
| ENST00000679343.1:n.271T>C | ||
| ENST00000191018.9:c.233T>C | ENSP00000191018.5:p.Val78Ala | |
| ENST00000354880.9:c.287T>C | ENSP00000346952.4:p.Val96Ala | |
| ENST00000372459.6:c.233T>C | ENSP00000361537.2:p.Val78Ala | |
| ENST00000372484.7:c.287T>C | ENSP00000361562.3:p.Val96Ala | |
| ENST00000606066.1:n.278T>C | ||
| ENST00000606394.5:c.248+192T>C | ENSP00000475827.1:n.248+192T>C | |
| ENST00000606788.5:c.287T>C | ENSP00000476235.1:p.Val96Ala | |
| ENST00000607212.1:n.409T>C | ||
| ENST00000607482.5:c.233T>C | ENSP00000475524.1:p.Val78Ala | |
| ENST00000607814.5:n.411T>C | ||
| ENST00000607841.5:n.278T>C | ||
| NM_000308.2:c.287T>C | NP_000299.2:p.Val96Ala | |
| NM_000308.3:c.287T>C | NP_000299.2:p.Val96Ala | |
| NM_001127695.1:c.233T>C | NP_001121167.1:p.Val78Ala | |
| NM_001127695.2:c.233T>C | NP_001121167.1:p.Val78Ala | |
| NM_001167594.1:c.287T>C | NP_001161066.1:p.Val96Ala | |
| NM_001167594.2:c.287T>C | NP_001161066.1:p.Val96Ala | |
| NR_133656.1:n.1469T>C | ||
| NM_000308.4:c.233T>C MANE Select | NP_000299.3:p.Val78Ala | |
| NM_001127695.3:c.233T>C | NP_001121167.1:p.Val78Ala | |
| NM_001167594.3:c.233T>C | NP_001161066.2:p.Val78Ala | |
| NR_133656.2:n.278T>C |