Linked Data
ClinVar Variation Id:
532919
dbSNP Id:
rs375139492
ExAC:
19:12917523 C / T
gnomAD v2:
19-12917523-C-T
gnomAD v3:
19-12806709-C-T
gnomAD v4:
19-12806709-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12806709C>T , CM000681.2:g.12806709C>T | GRCh38 |
| NC_000019.9:g.12917523C>T , CM000681.1:g.12917523C>T | GRCh37 |
| NC_000019.8:g.12778523C>T | NCBI36 |
| NG_012662.1:g.5096C>T , LRG_278:g.5096C>T | |
| NG_029901.1:g.172G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221486.6:c.36C>T (RNASEH2A) MANE Select | ENSP00000221486.4:p.Gly12= | |
| ENST00000590121.2:c.33C>T (RNASEH2A) | ENSP00000495087.1:p.Gly11= | |
| ENST00000590279.2:n.118C>T (RNASEH2A) | ||
| ENST00000593017.2:n.26C>T (RNASEH2A) | ||
| ENST00000639767.2:c.*7-299C>T (THSD8) | ENSP00000491410.2:n.*7-299C>T | |
| ENST00000643364.1:n.720C>T (THSD8) | ||
| ENST00000646769.1:c.36C>T (RNASEH2A) | ENSP00000495175.1:p.Gly12= | |
| ENST00000221486.4:c.36C>T (RNASEH2A) | ENSP00000221486.3:p.Gly12= | |
| ENST00000589765.1:n.41+18469G>A (HOOK2) | ||
| ENST00000590121.1:n.33C>T (RNASEH2A) | ||
| ENST00000590279.1:n.26C>T (RNASEH2A) | ||
| ENST00000593017.1:n.118C>T (RNASEH2A) | ||
| NM_006397.2:c.36C>T , LRG_278t1:c.36C>T (RNASEH2A) | NP_006388.2:p.Gly12= | |
| XM_006722619.2:c.-5-299C>T (RNASEH2A) | XP_006722682.1:n.-5-299C>T | |
| NM_006397.3:c.36C>T (RNASEH2A) MANE Select | NP_006388.2:p.Gly12= |