Revel Score:
ENST00000261584 (MANE Select)
0.112
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23603512G>T , CM000678.2:g.23603512G>T | GRCh38 |
| NC_000016.9:g.23614833G>T , CM000678.1:g.23614833G>T | GRCh37 |
| NC_000016.8:g.23522334G>T | NCBI36 |
| NG_007406.1:g.42846C>A , LRG_308:g.42846C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.3514C>A | ENSP00000460666.3:p.His1172Asn | |
| ENST00000565038.2:c.*993C>A | ENSP00000459882.2:n.*993C>A | |
| ENST00000566069.6:c.*143C>A | ENSP00000459237.2:n.*143C>A | |
| ENST00000697377.2:c.3352C>A | ENSP00000513286.2:p.His1118Asn | |
| ENST00000697379.2:c.3514C>A | ENSP00000513287.2:p.His1172Asn | |
| ENST00000561514.2:c.2623C>A | ENSP00000460666.2:p.His875Asn | |
| ENST00000697374.1:c.2623C>A | ENSP00000513284.1:p.His875Asn | |
| ENST00000697375.1:n.4855C>A | ||
| ENST00000697376.1:c.*143C>A | ENSP00000513285.1:n.*143C>A | |
| ENST00000697377.1:c.2461C>A | ENSP00000513286.1:p.His821Asn | |
| ENST00000697378.1:n.4028C>A | ||
| ENST00000697379.1:c.2623C>A | ENSP00000513287.1:p.His875Asn | |
| ENST00000697380.1:n.2712C>A | ||
| ENST00000697381.1:n.2203C>A | ||
| ENST00000697382.1:c.*285C>A | ENSP00000513288.1:n.*285C>A | |
| ENST00000697383.1:c.1042C>A | ENSP00000513289.1:p.His348Asn | |
| ENST00000261584.9:c.3508C>A MANE Select | ENSP00000261584.4:p.His1170Asn | |
| ENST00000261584.8:c.3508C>A | ENSP00000261584.4:p.His1170Asn | |
| ENST00000566069.5:c.274C>A | ||
| ENST00000568219.5:c.2623C>A | ENSP00000454703.2:p.His875Asn | |
| NM_024675.3:c.3508C>A , LRG_308t1:c.3508C>A | NP_078951.2:p.His1170Asn | |
| XM_011545946.1:c.3514C>A | XP_011544248.1:p.His1172Asn | |
| XM_011545947.1:c.*143C>A | XP_011544249.1:n.*143C>A | |
| XM_011545948.1:c.2623C>A | XP_011544250.1:p.His875Asn | |
| XR_950851.1:n.4216C>A | ||
| XM_011545946.2:c.3514C>A | XP_011544248.1:p.His1172Asn | |
| XM_011545947.2:c.*143C>A | XP_011544249.1:n.*143C>A | |
| XM_011545948.2:c.2623C>A | XP_011544250.1:p.His875Asn | |
| XM_017023671.1:c.3277C>A | XP_016879160.1:p.His1093Asn | |
| XM_017023672.2:c.3271C>A | XP_016879161.1:p.His1091Asn | |
| XM_017023673.2:c.*143C>A | XP_016879162.1:n.*143C>A | |
| NM_024675.4:c.3508C>A MANE Select | NP_078951.2:p.His1170Asn |