Linked Data
ClinVar Variation Id:
1092790
ClinVar RCV Id:
RCV001412760
dbSNP Id:
rs2148352120
gnomAD v4:
20-36892953-A-G
MyVariant Identifiers:
chr20:g.35521356A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.36892953A>G , CM000682.2:g.36892953A>G | GRCh38 |
| NC_000020.10:g.35521356A>G , CM000682.1:g.35521356A>G | GRCh37 |
| NC_000020.9:g.34954770A>G | NCBI36 |
| NG_017059.1:g.63891T>C , LRG_281:g.63891T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644114.2:c.1627T>C (SAMHD1) | ENSP00000494354.2:n.1627T>C | |
| ENST00000644250.2:c.1755T>C (SAMHD1) | ENSP00000493810.2:p.Leu585= | |
| ENST00000682773.1:c.1860T>C (SAMHD1) | ENSP00000507178.1:p.Leu620= | |
| ENST00000683720.1:c.1898T>C (SAMHD1) | ENSP00000508219.1:n.1898T>C | |
| ENST00000683766.1:c.1860T>C (SAMHD1) | ENSP00000506877.1:p.Leu620= | |
| ENST00000217320.8:c.*109A>G (TLDC2) MANE Select | ENSP00000217320.3:n.*109A>G | |
| ENST00000262878.5:c.1755T>C (SAMHD1) | ENSP00000262878.5:p.Leu585= | |
| ENST00000642186.1:c.*2164T>C (SAMHD1) | ENSP00000494436.1:n.*2164T>C | |
| ENST00000642246.1:c.*1539T>C (SAMHD1) | ENSP00000494979.1:n.*1539T>C | |
| ENST00000643918.1:c.*953T>C (SAMHD1) | ENSP00000493928.1:n.*953T>C | |
| ENST00000644114.1:c.1553T>C (SAMHD1) | ||
| ENST00000644250.1:c.114T>C (SAMHD1) | ENSP00000493810.1:p.Leu38= | |
| ENST00000645033.1:c.*1037T>C (SAMHD1) | ENSP00000494520.1:n.*1037T>C | |
| ENST00000646066.1:c.1650T>C (SAMHD1) | ENSP00000495432.1:p.Leu550= | |
| ENST00000646673.2:c.1860T>C (SAMHD1) MANE Select | ENSP00000493536.2:p.Leu620= | |
| ENST00000646869.1:c.1860T>C (SAMHD1) | ENSP00000495667.1:p.Leu620= | |
| ENST00000646904.1:c.*1066T>C (SAMHD1) | ENSP00000494823.1:n.*1066T>C | |
| ENST00000647095.1:n.3058T>C (SAMHD1) | ||
| ENST00000647163.1:c.*1037T>C (SAMHD1) | ENSP00000494313.1:n.*1037T>C | |
| ENST00000647459.1:n.2909T>C (SAMHD1) | ||
| ENST00000217320.7:c.*109A>G (TLDC2) | ENSP00000217320.3:n.*109A>G | |
| ENST00000262878.4:c.1860T>C (SAMHD1) | ENSP00000262878.4:p.Leu620= | |
| ENST00000436941.1:c.166A>G (TLDC2) | ENSP00000394804.1:n.166A>G | |
| NM_001304783.1:c.*109A>G (TLDC2) | NP_001291712.1:n.*109A>G | |
| NM_015474.3:c.1860T>C , LRG_281t1:c.1860T>C (SAMHD1) | NP_056289.2:p.Leu620= | |
| NM_080628.2:c.*109A>G (TLDC2) | NP_542195.1:n.*109A>G | |
| XM_005260384.2:c.1755T>C (SAMHD1) | XP_005260441.1:p.Leu585= | |
| NM_001363729.1:c.1755T>C (SAMHD1) | NP_001350658.1:p.Leu585= | |
| NM_001363733.1:c.*953T>C (SAMHD1) | NP_001350662.1:n.*953T>C | |
| NM_080628.3:c.*109A>G (TLDC2) MANE Select | NP_542195.1:n.*109A>G | |
| NM_001363729.2:c.1755T>C (SAMHD1) | NP_001350658.1:p.Leu585= | |
| NM_001363733.2:c.*953T>C (SAMHD1) | NP_001350662.1:n.*953T>C | |
| NM_015474.4:c.1860T>C (SAMHD1) MANE Select | NP_056289.2:p.Leu620= |