Linked Data
ClinVar Variation Id:
328289
ClinVar RCV Id:
RCV000405088
dbSNP Id:
rs374650162
gnomAD v2:
19-12918105-G-A
gnomAD v3:
19-12807291-G-A
gnomAD v4:
19-12807291-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12807291G>A , CM000681.2:g.12807291G>A | GRCh38 |
| NC_000019.9:g.12918105G>A , CM000681.1:g.12918105G>A | GRCh37 |
| NC_000019.8:g.12779105G>A | NCBI36 |
| NG_012662.1:g.5678G>A , LRG_278:g.5678G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221486.6:c.285G>A (RNASEH2A) MANE Select | ENSP00000221486.4:p.Val95= | |
| ENST00000590121.2:c.282G>A (RNASEH2A) | ENSP00000495087.1:p.Val94= | |
| ENST00000590279.2:n.700G>A (RNASEH2A) | ||
| ENST00000593017.2:n.482G>A (RNASEH2A) | ||
| ENST00000639767.2:c.*164G>A (THSD8) | ENSP00000491410.2:n.*164G>A | |
| ENST00000643757.1:n.320G>A (RNASEH2A) | ||
| ENST00000646769.1:c.200-128G>A (RNASEH2A) | ENSP00000495175.1:n.200-128G>A | |
| ENST00000221486.4:c.285G>A (RNASEH2A) | ENSP00000221486.3:p.Val95= | |
| ENST00000589765.1:n.41+17887C>T (HOOK2) | ||
| ENST00000590121.1:n.282G>A (RNASEH2A) | ||
| ENST00000590279.1:n.482G>A (RNASEH2A) | ||
| ENST00000593017.1:n.700G>A (RNASEH2A) | ||
| NM_006397.2:c.285G>A , LRG_278t1:c.285G>A (RNASEH2A) | NP_006388.2:p.Val95= | |
| XM_006722619.2:c.153G>A (RNASEH2A) | XP_006722682.1:p.Val51= | |
| NM_006397.3:c.285G>A (RNASEH2A) MANE Select | NP_006388.2:p.Val95= |