Revel Score:
ENST00000555835 (MANE Select)
0.571
ENST00000397995
0.571
ENST00000555597
0.571
ENST00000398001
0.571
ENST00000304704
0.571
ENST00000397999
0.571
gnomAD v4:
Joint Max Group AF
0.0000036 (NFE)
Exomes Max Group AF
0.00000382 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20699417A>C , CM000676.2:g.20699417A>C | GRCh38 |
| NC_000014.8:g.21167576A>C , CM000676.1:g.21167576A>C | GRCh37 |
| NC_000014.7:g.20237416A>C | NCBI36 |
| NG_008717.2:g.20241A>C , LRG_653:g.20241A>C | |
| NG_033053.1:g.20205A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555835.3:c.46A>C (RNASE4) MANE Select | ENSP00000452245.1:p.Thr16Pro | |
| ENST00000397995.2:c.46A>C (RNASE4) | ENSP00000381081.2:p.Thr16Pro | |
| ENST00000553909.1:c.*53A>C | ENSP00000477037.1:n.*53A>C | |
| ENST00000555597.1:c.46A>C (RNASE4) | ENSP00000451624.1:p.Thr16Pro | |
| ENST00000555835.2:c.46A>C (RNASE4) | ENSP00000452245.1:p.Thr16Pro | |
| NM_001282192.1:c.46A>C (RNASE4) | NP_001269121.1:p.Thr16Pro | |
| NM_001282193.1:c.46A>C (RNASE4) | NP_001269122.1:p.Thr16Pro | |
| NM_002937.4:c.46A>C (RNASE4) | NP_002928.1:p.Thr16Pro | |
| NM_194431.2:c.46A>C (RNASE4) | NP_919412.1:p.Thr16Pro | |
| NM_002937.5:c.46A>C (RNASE4) MANE Select | NP_002928.1:p.Thr16Pro | |
| NM_001282192.2:c.46A>C (RNASE4) | NP_001269121.1:p.Thr16Pro | |
| NM_001282193.2:c.46A>C (RNASE4) | NP_001269122.1:p.Thr16Pro | |
| NM_194431.3:c.46A>C (RNASE4) | NP_919412.1:p.Thr16Pro | |
| NR_174964.1:n.277T>G (EGILA) |