Revel Score:
ENST00000252242 (MANE Select)
0.840
ENST00000456000
0.840
ENST00000549420
0.840
ENST00000551275
0.840
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519756A>G , CM000674.2:g.52519756A>G | GRCh38 |
| NC_000012.11:g.52913540A>G , CM000674.1:g.52913540A>G | GRCh37 |
| NC_000012.10:g.51199807A>G | NCBI36 |
| NG_008297.1:g.5704T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.541T>C MANE Select | ENSP00000252242.4:p.Ser181Pro | |
| ENST00000252242.8:c.541T>C | ENSP00000252242.4:p.Ser181Pro | |
| ENST00000549420.1:c.211T>C | ENSP00000447209.1:p.Ser71Pro | |
| ENST00000551275.1:c.436T>C | ENSP00000448041.1:p.Ser146Pro | |
| ENST00000552629.5:n.639T>C | ||
| NM_000424.3:c.541T>C | NP_000415.2:p.Ser181Pro | |
| NM_000424.4:c.541T>C MANE Select | NP_000415.2:p.Ser181Pro |