Revel Score:
ENST00000274024 (MANE Select)
0.488
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119320748G>C , CM000666.2:g.119320748G>C | GRCh38 |
| NC_000004.11:g.120241903G>C , CM000666.1:g.120241903G>C | GRCh37 |
| NC_000004.10:g.120461351G>C | NCBI36 |
| NG_011444.1:g.6414C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274024.4:c.162C>G MANE Select | ENSP00000274024.3:p.Ser54Arg | |
| ENST00000274024.3:c.162C>G | ENSP00000274024.3:p.Ser54Arg | |
| NM_000134.3:c.162C>G | NP_000125.2:p.Ser54Arg | |
| NM_000134.4:c.162C>G MANE Select | NP_000125.2:p.Ser54Arg |