Revel Score:
ENST00000349258
0.045
ENST00000544466
0.045
ENST00000258613 (MANE Select)
0.045
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.52377647A>G , CM000675.2:g.52377647A>G | GRCh38 |
| NC_000013.10:g.52951782A>G , CM000675.1:g.52951782A>G | GRCh37 |
| NC_000013.9:g.51849783A>G | NCBI36 |
| NG_047168.1:g.33848T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258613.5:c.2323T>C MANE Select | ENSP00000258613.4:p.Ser775Pro | |
| ENST00000648254.1:c.2164T>C | ENSP00000497520.1:p.Ser722Pro | |
| ENST00000258613.4:c.2323T>C | ENSP00000258613.4:p.Ser775Pro | |
| ENST00000349258.8:c.2164T>C | ENSP00000340650.4:p.Ser722Pro | |
| NM_018676.3:c.2323T>C | NP_061146.1:p.Ser775Pro | |
| NM_199263.2:c.2164T>C | NP_954872.1:p.Ser722Pro | |
| NM_018676.4:c.2323T>C MANE Select | NP_061146.1:p.Ser775Pro | |
| NM_199263.3:c.2164T>C | NP_954872.1:p.Ser722Pro |