Linked Data
ClinVar Variation Id:
312328
ClinVar RCV Id:
RCV000386914
dbSNP Id:
rs886050289
gnomAD v4:
13-50909970-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.50909970G>A , CM000675.2:g.50909970G>A | GRCh38 |
| NC_000013.10:g.51484106G>A , CM000675.1:g.51484106G>A | GRCh37 |
| NC_000013.9:g.50382107G>A | NCBI36 |
| NG_009055.1:g.5215G>A , LRG_279:g.5215G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336617.8:c.-107G>A (RNASEH2B) MANE Select | ENSP00000337623.2:n.-107G>A | |
| ENST00000422660.6:c.-107G>A (RNASEH2B) | ENSP00000389877.1:n.-107G>A | |
| ENST00000637648.2:c.-334G>A (RNASEH2B) | ENSP00000490077.2:n.-334G>A | |
| ENST00000643774.1:c.-481G>A (RNASEH2B) | ENSP00000495482.1:n.-481G>A | |
| ENST00000644034.1:c.-107G>A (RNASEH2B) | ENSP00000495456.1:n.-107G>A | |
| ENST00000644297.1:c.-107G>A (RNASEH2B) | ENSP00000495519.1:n.-107G>A | |
| ENST00000645188.1:c.-107G>A (RNASEH2B) | ENSP00000496224.1:n.-107G>A | |
| ENST00000645549.1:n.158G>A (RNASEH2B) | ||
| ENST00000645955.1:c.-107G>A (RNASEH2B) | ENSP00000495755.1:n.-107G>A | |
| ENST00000646279.1:n.191G>A (RNASEH2B) | ||
| ENST00000646731.1:c.-107G>A (RNASEH2B) | ENSP00000493828.1:n.-107G>A | |
| ENST00000646960.1:c.-107G>A (RNASEH2B) | ENSP00000496481.1:n.-107G>A | |
| ENST00000336617.7:c.-107G>A (RNASEH2B) | ENSP00000337623.2:n.-107G>A | |
| ENST00000422660.5:c.-107G>A (RNASEH2B) | ENSP00000389877.1:n.-107G>A | |
| ENST00000611510.4:c.-107G>A (RNASEH2B) | ENSP00000481236.2:n.-107G>A | |
| NM_001142279.2:c.-107G>A , LRG_279t1:c.-107G>A (RNASEH2B) | NP_001135751.1:n.-107G>A | |
| NM_024570.3:c.-107G>A , LRG_279t2:c.-107G>A (RNASEH2B) | NP_078846.2:n.-107G>A | |
| NR_046552.1:n.230+513C>T (RNASEH2B-AS1) | ||
| XM_005266524.2:c.-107G>A (RNASEH2B) | XP_005266581.1:n.-107G>A | |
| XM_005266525.2:c.-107G>A (RNASEH2B) | XP_005266582.1:n.-107G>A | |
| XM_011535229.1:c.-107G>A (RNASEH2B) | XP_011533531.1:n.-107G>A | |
| XM_011535230.1:c.-107G>A (RNASEH2B) | XP_011533532.1:n.-107G>A | |
| XM_011535231.1:c.-107G>A (RNASEH2B) | XP_011533533.1:n.-107G>A | |
| XM_011535234.1:c.-107G>A (RNASEH2B) | XP_011533536.1:n.-107G>A | |
| XM_011535230.2:c.-107G>A (RNASEH2B) | XP_011533532.1:n.-107G>A | |
| XM_011535231.2:c.-107G>A (RNASEH2B) | XP_011533533.1:n.-107G>A | |
| XM_017020747.1:c.-107G>A (RNASEH2B) | XP_016876236.1:n.-107G>A | |
| NM_024570.4:c.-107G>A (RNASEH2B) MANE Select | NP_078846.2:n.-107G>A |