Linked Data
ClinVar Variation Id:
66065
ClinVar RCV Id:
RCV000056302
dbSNP Id:
rs397515479
gnomAD v4:
19-12806748-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12806748C>T , CM000681.2:g.12806748C>T | GRCh38 |
| NC_000019.9:g.12917562C>T , CM000681.1:g.12917562C>T | GRCh37 |
| NC_000019.8:g.12778562C>T | NCBI36 |
| NG_012662.1:g.5135C>T , LRG_278:g.5135C>T | |
| NG_029901.1:g.133G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221486.6:c.75C>T (RNASEH2A) MANE Select | ENSP00000221486.4:p.Arg25= | |
| ENST00000590121.2:c.72C>T (RNASEH2A) | ENSP00000495087.1:p.Arg24= | |
| ENST00000590279.2:n.157C>T (RNASEH2A) | ||
| ENST00000593017.2:n.65C>T (RNASEH2A) | ||
| ENST00000639767.2:c.*7-260C>T (THSD8) | ENSP00000491410.2:n.*7-260C>T | |
| ENST00000643364.1:n.759C>T (THSD8) | ||
| ENST00000646769.1:c.75C>T (RNASEH2A) | ENSP00000495175.1:p.Arg25= | |
| ENST00000221486.4:c.75C>T (RNASEH2A) | ENSP00000221486.3:p.Arg25= | |
| ENST00000589765.1:n.41+18430G>A (HOOK2) | ||
| ENST00000590121.1:n.72C>T (RNASEH2A) | ||
| ENST00000590279.1:n.65C>T (RNASEH2A) | ||
| ENST00000593017.1:n.157C>T (RNASEH2A) | ||
| NM_006397.2:c.75C>T , LRG_278t1:c.75C>T (RNASEH2A) | NP_006388.2:p.Arg25= | |
| XM_006722619.2:c.-5-260C>T (RNASEH2A) | XP_006722682.1:n.-5-260C>T | |
| NM_006397.3:c.75C>T (RNASEH2A) MANE Select | NP_006388.2:p.Arg25= |