Linked Data
ClinVar Variation Id:
1357272
ClinVar RCV Id:
RCV001893943
dbSNP Id:
rs2145824200
gnomAD v4:
19-12806792-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12806792C>T , CM000681.2:g.12806792C>T | GRCh38 |
| NC_000019.9:g.12917606C>T , CM000681.1:g.12917606C>T | GRCh37 |
| NC_000019.8:g.12778606C>T | NCBI36 |
| NG_012662.1:g.5179C>T , LRG_278:g.5179C>T | |
| NG_029901.1:g.89G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221486.6:c.119C>T (RNASEH2A) MANE Select | ENSP00000221486.4:p.Pro40Leu | |
| ENST00000590121.2:c.116C>T (RNASEH2A) | ENSP00000495087.1:p.Pro39Leu | |
| ENST00000590279.2:n.201C>T (RNASEH2A) | ||
| ENST00000593017.2:n.109C>T (RNASEH2A) | ||
| ENST00000639767.2:c.*7-216C>T (THSD8) | ENSP00000491410.2:n.*7-216C>T | |
| ENST00000646769.1:c.119C>T (RNASEH2A) | ENSP00000495175.1:p.Pro40Leu | |
| ENST00000221486.4:c.119C>T (RNASEH2A) | ENSP00000221486.3:p.Pro40Leu | |
| ENST00000589765.1:n.41+18386G>A (HOOK2) | ||
| ENST00000590121.1:n.116C>T (RNASEH2A) | ||
| ENST00000590279.1:n.109C>T (RNASEH2A) | ||
| ENST00000593017.1:n.201C>T (RNASEH2A) | ||
| NM_006397.2:c.119C>T , LRG_278t1:c.119C>T (RNASEH2A) | NP_006388.2:p.Pro40Leu | |
| XM_006722619.2:c.-5-216C>T (RNASEH2A) | XP_006722682.1:n.-5-216C>T | |
| NM_006397.3:c.119C>T (RNASEH2A) MANE Select | NP_006388.2:p.Pro40Leu |