Linked Data
ClinVar Variation Id:
312321
ClinVar RCV Id:
RCV000327726
dbSNP Id:
rs553965425
gnomAD v2:
13-51483814-C-G
gnomAD v3:
13-50909678-C-G
gnomAD v4:
13-50909678-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.50909678C>G , CM000675.2:g.50909678C>G | GRCh38 |
| NC_000013.10:g.51483814C>G , CM000675.1:g.51483814C>G | GRCh37 |
| NC_000013.9:g.50381815C>G | NCBI36 |
| NG_009055.1:g.4923C>G , LRG_279:g.4923C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336617.7:c.-399C>G (RNASEH2B) | ENSP00000337623.2:n.-399C>G | |
| NM_001142279.2:c.-399C>G , LRG_279t1:c.-399C>G (RNASEH2B) | NP_001135751.1:n.-399C>G | |
| NM_024570.3:c.-399C>G , LRG_279t2:c.-399C>G (RNASEH2B) | NP_078846.2:n.-399C>G | |
| NR_046552.1:n.230+805G>C (RNASEH2B-AS1) |