Linked Data
ClinVar Variation Id:
126397
ClinVar RCV Id:
RCV000114338
dbSNP Id:
rs76436818
gnomAD v2:
19-12918142-C-T
PubMed:
PMID:20301648
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12807328C>T , CM000681.2:g.12807328C>T | GRCh38 |
| NC_000019.9:g.12918142C>T , CM000681.1:g.12918142C>T | GRCh37 |
| NC_000019.8:g.12779142C>T | NCBI36 |
| NG_012662.1:g.5715C>T , LRG_278:g.5715C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221486.6:c.322C>T (RNASEH2A) MANE Select | ENSP00000221486.4:p.Arg108Trp | |
| ENST00000590121.2:c.319C>T (RNASEH2A) | ENSP00000495087.1:p.Arg107Trp | |
| ENST00000590279.2:n.737C>T (RNASEH2A) | ||
| ENST00000593017.2:n.519C>T (RNASEH2A) | ||
| ENST00000639767.2:c.*201C>T (THSD8) | ENSP00000491410.2:n.*201C>T | |
| ENST00000643757.1:n.357C>T (RNASEH2A) | ||
| ENST00000646769.1:c.200-91C>T (RNASEH2A) | ENSP00000495175.1:n.200-91C>T | |
| ENST00000221486.4:c.322C>T (RNASEH2A) | ENSP00000221486.3:p.Arg108Trp | |
| ENST00000589765.1:n.41+17850G>A (HOOK2) | ||
| ENST00000590121.1:n.319C>T (RNASEH2A) | ||
| ENST00000590279.1:n.519C>T (RNASEH2A) | ||
| ENST00000593017.1:n.737C>T (RNASEH2A) | ||
| NM_006397.2:c.322C>T , LRG_278t1:c.322C>T (RNASEH2A) | NP_006388.2:p.Arg108Trp | |
| XM_006722619.2:c.190C>T (RNASEH2A) | XP_006722682.1:p.Arg64Trp | |
| NM_006397.3:c.322C>T (RNASEH2A) MANE Select | NP_006388.2:p.Arg108Trp |