Linked Data
ClinVar Variation Id:
338333
dbSNP Id:
rs886056646
gnomAD v2:
20-35520973-C-T
gnomAD v3:
20-36892570-C-T
gnomAD v4:
20-36892570-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.36892570C>T , CM000682.2:g.36892570C>T | GRCh38 |
| NC_000020.10:g.35520973C>T , CM000682.1:g.35520973C>T | GRCh37 |
| NC_000020.9:g.34954387C>T | NCBI36 |
| NG_017059.1:g.64274G>A , LRG_281:g.64274G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644250.2:c.*313+49G>A (SAMHD1) | ENSP00000493810.2:n.*313+49G>A | |
| ENST00000682773.1:c.*124+238G>A (SAMHD1) | ENSP00000507178.1:n.*124+238G>A | |
| ENST00000683766.1:c.*353+9G>A (SAMHD1) | ENSP00000506877.1:n.*353+9G>A | |
| ENST00000217320.8:c.*18-292C>T (TLDC2) MANE Select | ENSP00000217320.3:n.*18-292C>T | |
| ENST00000262878.5:c.*362G>A (SAMHD1) | ENSP00000262878.5:n.*362G>A | |
| ENST00000642246.1:c.*1922G>A (SAMHD1) | ENSP00000494979.1:n.*1922G>A | |
| ENST00000644250.1:c.448+49G>A (SAMHD1) | ENSP00000493810.1:n.448+49G>A | |
| ENST00000645033.1:c.*1420G>A (SAMHD1) | ENSP00000494520.1:n.*1420G>A | |
| ENST00000646673.2:c.*362G>A (SAMHD1) MANE Select | ENSP00000493536.2:n.*362G>A | |
| ENST00000646869.1:c.*353+9G>A (SAMHD1) | ENSP00000495667.1:n.*353+9G>A | |
| ENST00000646904.1:c.*1449G>A (SAMHD1) | ENSP00000494823.1:n.*1449G>A | |
| ENST00000647095.1:n.3441G>A (SAMHD1) | ||
| ENST00000647163.1:c.*1227+193G>A (SAMHD1) | ENSP00000494313.1:n.*1227+193G>A | |
| ENST00000217320.7:c.*18-292C>T (TLDC2) | ENSP00000217320.3:n.*18-292C>T | |
| ENST00000262878.4:c.*362G>A (SAMHD1) | ENSP00000262878.4:n.*362G>A | |
| ENST00000436941.1:c.75-292C>T (TLDC2) | ENSP00000394804.1:n.75-292C>T | |
| NM_001304783.1:c.*18-292C>T (TLDC2) | NP_001291712.1:n.*18-292C>T | |
| NM_015474.3:c.*362G>A , LRG_281t1:c.*362G>A (SAMHD1) | NP_056289.2:n.*362G>A | |
| NM_080628.2:c.*18-292C>T (TLDC2) | NP_542195.1:n.*18-292C>T | |
| NM_001363729.1:c.*362G>A (SAMHD1) | NP_001350658.1:n.*362G>A | |
| NM_080628.3:c.*18-292C>T (TLDC2) MANE Select | NP_542195.1:n.*18-292C>T | |
| NM_001363729.2:c.*362G>A (SAMHD1) | NP_001350658.1:n.*362G>A | |
| NM_015474.4:c.*362G>A (SAMHD1) MANE Select | NP_056289.2:n.*362G>A |