Linked Data
ClinVar Variation Id:
537757
dbSNP Id:
rs35102927
ExAC:
20:35521419 G / A
gnomAD v2:
20-35521419-G-A
gnomAD v3:
20-36893016-G-A
gnomAD v4:
20-36893016-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.36893016G>A , CM000682.2:g.36893016G>A | GRCh38 |
| NC_000020.10:g.35521419G>A , CM000682.1:g.35521419G>A | GRCh37 |
| NC_000020.9:g.34954833G>A | NCBI36 |
| NG_017059.1:g.63828C>T , LRG_281:g.63828C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644114.2:c.1564C>T (SAMHD1) | ENSP00000494354.2:n.1564C>T | |
| ENST00000644250.2:c.1692C>T (SAMHD1) | ENSP00000493810.2:p.Asn564= | |
| ENST00000682773.1:c.1797C>T (SAMHD1) | ENSP00000507178.1:p.Asn599= | |
| ENST00000683720.1:c.1835C>T (SAMHD1) | ENSP00000508219.1:n.1835C>T | |
| ENST00000683766.1:c.1797C>T (SAMHD1) | ENSP00000506877.1:p.Asn599= | |
| ENST00000217320.8:c.*172G>A (TLDC2) MANE Select | ENSP00000217320.3:n.*172G>A | |
| ENST00000262878.5:c.1692C>T (SAMHD1) | ENSP00000262878.5:p.Asn564= | |
| ENST00000642186.1:c.*2101C>T (SAMHD1) | ENSP00000494436.1:n.*2101C>T | |
| ENST00000642246.1:c.*1476C>T (SAMHD1) | ENSP00000494979.1:n.*1476C>T | |
| ENST00000643918.1:c.*890C>T (SAMHD1) | ENSP00000493928.1:n.*890C>T | |
| ENST00000644114.1:c.1490C>T (SAMHD1) | ||
| ENST00000644250.1:c.51C>T (SAMHD1) | ENSP00000493810.1:p.Asn17= | |
| ENST00000645033.1:c.*974C>T (SAMHD1) | ENSP00000494520.1:n.*974C>T | |
| ENST00000646066.1:c.1587C>T (SAMHD1) | ENSP00000495432.1:p.Asn529= | |
| ENST00000646673.2:c.1797C>T (SAMHD1) MANE Select | ENSP00000493536.2:p.Asn599= | |
| ENST00000646869.1:c.1797C>T (SAMHD1) | ENSP00000495667.1:p.Asn599= | |
| ENST00000646904.1:c.*1003C>T (SAMHD1) | ENSP00000494823.1:n.*1003C>T | |
| ENST00000647095.1:n.2995C>T (SAMHD1) | ||
| ENST00000647163.1:c.*974C>T (SAMHD1) | ENSP00000494313.1:n.*974C>T | |
| ENST00000647459.1:n.2846C>T (SAMHD1) | ||
| ENST00000217320.7:c.*172G>A (TLDC2) | ENSP00000217320.3:n.*172G>A | |
| ENST00000262878.4:c.1797C>T (SAMHD1) | ENSP00000262878.4:p.Asn599= | |
| ENST00000436941.1:c.229G>A (TLDC2) | ENSP00000394804.1:n.229G>A | |
| NM_001304783.1:c.*172G>A (TLDC2) | NP_001291712.1:n.*172G>A | |
| NM_015474.3:c.1797C>T , LRG_281t1:c.1797C>T (SAMHD1) | NP_056289.2:p.Asn599= | |
| NM_080628.2:c.*172G>A (TLDC2) | NP_542195.1:n.*172G>A | |
| XM_005260384.2:c.1692C>T (SAMHD1) | XP_005260441.1:p.Asn564= | |
| NM_001363729.1:c.1692C>T (SAMHD1) | NP_001350658.1:p.Asn564= | |
| NM_001363733.1:c.*890C>T (SAMHD1) | NP_001350662.1:n.*890C>T | |
| NM_080628.3:c.*172G>A (TLDC2) MANE Select | NP_542195.1:n.*172G>A | |
| NM_001363729.2:c.1692C>T (SAMHD1) | NP_001350658.1:p.Asn564= | |
| NM_001363733.2:c.*890C>T (SAMHD1) | NP_001350662.1:n.*890C>T | |
| NM_015474.4:c.1797C>T (SAMHD1) MANE Select | NP_056289.2:p.Asn599= |