Linked Data
ClinVar Variation Id:
66067
dbSNP Id:
rs397515480
ExAC:
19:12917556 G / A
gnomAD v2:
19-12917556-G-A
gnomAD v3:
19-12806742-G-A
gnomAD v4:
19-12806742-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12806742G>A , CM000681.2:g.12806742G>A | GRCh38 |
| NC_000019.9:g.12917556G>A , CM000681.1:g.12917556G>A | GRCh37 |
| NC_000019.8:g.12778556G>A | NCBI36 |
| NG_012662.1:g.5129G>A , LRG_278:g.5129G>A | |
| NG_029901.1:g.139C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221486.6:c.69G>A (RNASEH2A) MANE Select | ENSP00000221486.4:p.Val23= | |
| ENST00000590121.2:c.66G>A (RNASEH2A) | ENSP00000495087.1:p.Val22= | |
| ENST00000590279.2:n.151G>A (RNASEH2A) | ||
| ENST00000593017.2:n.59G>A (RNASEH2A) | ||
| ENST00000639767.2:c.*7-266G>A (THSD8) | ENSP00000491410.2:n.*7-266G>A | |
| ENST00000643364.1:n.753G>A (THSD8) | ||
| ENST00000646769.1:c.69G>A (RNASEH2A) | ENSP00000495175.1:p.Val23= | |
| ENST00000221486.4:c.69G>A (RNASEH2A) | ENSP00000221486.3:p.Val23= | |
| ENST00000589765.1:n.41+18436C>T (HOOK2) | ||
| ENST00000590121.1:n.66G>A (RNASEH2A) | ||
| ENST00000590279.1:n.59G>A (RNASEH2A) | ||
| ENST00000593017.1:n.151G>A (RNASEH2A) | ||
| NM_006397.2:c.69G>A , LRG_278t1:c.69G>A (RNASEH2A) | NP_006388.2:p.Val23= | |
| XM_006722619.2:c.-5-266G>A (RNASEH2A) | XP_006722682.1:n.-5-266G>A | |
| NM_006397.3:c.69G>A (RNASEH2A) MANE Select | NP_006388.2:p.Val23= |