Linked Data
ClinVar Variation Id:
328296
ClinVar RCV Id:
RCV000323597
dbSNP Id:
rs781591228
gnomAD v2:
19-12924129-C-G
gnomAD v3:
19-12813315-C-G
gnomAD v4:
19-12813315-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12813315C>G , CM000681.2:g.12813315C>G | GRCh38 |
| NC_000019.9:g.12924129C>G , CM000681.1:g.12924129C>G | GRCh37 |
| NC_000019.8:g.12785129C>G | NCBI36 |
| NG_012662.1:g.11702C>G , LRG_278:g.11702C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221486.6:c.762-13C>G (RNASEH2A) MANE Select | ENSP00000221486.4:n.762-13C>G | |
| ENST00000593017.2:n.1048-13C>G (RNASEH2A) | ||
| ENST00000639767.2:c.*641-13C>G (THSD8) | ENSP00000491410.2:n.*641-13C>G | |
| ENST00000643757.1:n.797-13C>G (RNASEH2A) | ||
| ENST00000646769.1:c.*422-13C>G (RNASEH2A) | ENSP00000495175.1:n.*422-13C>G | |
| ENST00000221486.4:c.762-13C>G (RNASEH2A) | ENSP00000221486.3:n.762-13C>G | |
| ENST00000589765.1:n.41+11863G>C (HOOK2) | ||
| ENST00000593017.1:n.1177-13C>G (RNASEH2A) | ||
| NM_006397.2:c.762-13C>G , LRG_278t1:c.762-13C>G (RNASEH2A) | NP_006388.2:n.762-13C>G | |
| XM_006722619.2:c.630-13C>G (RNASEH2A) | XP_006722682.1:n.630-13C>G | |
| NM_006397.3:c.762-13C>G (RNASEH2A) MANE Select | NP_006388.2:n.762-13C>G |