Revel Score:
ENST00000359863
0.616
ENST00000355540
0.616
ENST00000446306
0.616
ENST00000456197 (MANE Select)
0.507
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.98955183C>T , CM000669.2:g.98955183C>T | GRCh38 |
| NC_000007.13:g.98552806C>T , CM000669.1:g.98552806C>T | GRCh37 |
| NC_000007.12:g.98390742C>T | NCBI36 |
| NG_030010.1:g.81694C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000446306.8:c.5738C>T | ENSP00000403708.3:p.Pro1913Leu | |
| ENST00000704588.1:c.1553C>T | ENSP00000515962.1:p.Pro518Leu | |
| ENST00000456197.2:c.5816C>T MANE Select | ENSP00000394645.2:p.Pro1939Leu | |
| ENST00000355540.7:c.5741C>T | ENSP00000347733.3:p.Pro1914Leu | |
| ENST00000359863.8:c.5795C>T | ENSP00000352925.4:p.Pro1932Leu | |
| ENST00000446306.7:c.5738C>T | ENSP00000403708.3:p.Pro1913Leu | |
| ENST00000456197.1:c.4960C>T | ||
| ENST00000628380.2:c.5738C>T | ENSP00000485781.1:p.Pro1913Leu | |
| NM_001244580.1:c.5795C>T | NP_001231509.1:p.Pro1932Leu | |
| NM_003496.3:c.5741C>T | NP_003487.1:p.Pro1914Leu | |
| NM_001375524.1:c.5816C>T MANE Select | NP_001362453.1:p.Pro1939Leu | |
| NM_001244580.2:c.5795C>T | NP_001231509.1:p.Pro1932Leu | |
| NM_003496.4:c.5741C>T | NP_003487.1:p.Pro1914Leu |