Revel Score:
ENST00000542220
0.224
ENST00000536053
0.224
ENST00000535233
0.224
ENST00000290575
0.224
ENST00000542285
0.224
ENST00000540610
0.224
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.7089608C>G , CM000674.2:g.7089608C>G | GRCh38 |
| NC_000012.11:g.7242204C>G , CM000674.1:g.7242204C>G | GRCh37 |
| NC_000012.10:g.7133345C>G | NCBI36 |
| NG_062465.1:g.8000G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647956.2:c.550G>C (C1R) MANE Select | ENSP00000497341.1:p.Glu184Gln | |
| ENST00000648162.1:n.522G>C (C1R) | ||
| ENST00000535233.6:c.448G>C (C1R) | ENSP00000438636.3:p.Glu150Gln | |
| ENST00000536053.6:c.592G>C (C1R) | ENSP00000444271.3:p.Glu198Gln | |
| ENST00000539803.5:c.1017G>C (C1RL) | ||
| ENST00000540394.5:n.1309G>C (C1R) | ||
| ENST00000540610.5:c.235G>C (C1R) | ENSP00000439223.1:p.Glu79Gln | |
| ENST00000542285.5:c.550G>C (C1R) | ENSP00000438615.2:p.Glu184Gln | |
| ENST00000543362.5:c.*202G>C (C1R) | ENSP00000446356.1:n.*202G>C | |
| NM_001733.4:c.550G>C (C1R) | NP_001724.3:p.Glu184Gln | |
| NM_001354346.1:c.592G>C (C1R) | NP_001341275.1:p.Glu198Gln | |
| NM_001733.6:c.550G>C (C1R) | NP_001724.4:p.Glu184Gln | |
| NM_001733.7:c.550G>C (C1R) MANE Select | NP_001724.4:p.Glu184Gln | |
| NM_001354346.2:c.592G>C (C1R) | NP_001341275.1:p.Glu198Gln |