Linked Data
ClinVar Variation Id:
312771
ClinVar RCV Id:
RCV000370715
dbSNP Id:
rs117978329
gnomAD v2:
14-21152895-T-C
gnomAD v3:
14-20684736-T-C
gnomAD v4:
14-20684736-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20684736T>C , CM000676.2:g.20684736T>C | GRCh38 |
| NC_000014.8:g.21152895T>C , CM000676.1:g.21152895T>C | GRCh37 |
| NC_000014.7:g.20222735T>C | NCBI36 |
| NG_008717.2:g.5560T>C , LRG_653:g.5560T>C | |
| NG_033053.1:g.5524T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555835.3:c.-40T>C (RNASE4) MANE Select | ENSP00000452245.1:n.-40T>C | |
| ENST00000336811.10:c.-41T>C (ANG) | ENSP00000336762.6:n.-41T>C | |
| ENST00000397995.2:c.-18+40T>C (RNASE4) | ENSP00000381081.2:n.-18+40T>C | |
| ENST00000553909.1:c.-41T>C | ENSP00000477037.1:n.-41T>C | |
| ENST00000554073.1:n.123T>C (ANG) | ||
| ENST00000555835.2:c.-40T>C (RNASE4) | ENSP00000452245.1:n.-40T>C | |
| NM_001145.4:c.-41T>C , LRG_653t1:c.-41T>C (ANG) | NP_001136.1:n.-41T>C | |
| NM_001282192.1:c.-144T>C (RNASE4) | NP_001269121.1:n.-144T>C | |
| NM_001282193.1:c.-18+40T>C (RNASE4) | NP_001269122.1:n.-18+40T>C | |
| NM_002937.4:c.-40T>C (RNASE4) | NP_002928.1:n.-40T>C | |
| NM_002937.5:c.-40T>C (RNASE4) MANE Select | NP_002928.1:n.-40T>C | |
| NM_001282192.2:c.-144T>C (RNASE4) | NP_001269121.1:n.-144T>C | |
| NM_001282193.2:c.-18+40T>C (RNASE4) | NP_001269122.1:n.-18+40T>C | |
| NM_001385271.1:c.-165T>C (ANG) | NP_001372200.1:n.-165T>C | |
| NM_001385273.1:c.-19+40T>C (ANG) | NP_001372202.1:n.-19+40T>C |