Revel Score:
ENST00000320005 (MANE Select)
0.122
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86743617G>C , CM000670.2:g.86743617G>C | GRCh38 |
| NC_000008.10:g.87755845G>C , CM000670.1:g.87755845G>C | GRCh37 |
| NC_000008.9:g.87824961G>C | NCBI36 |
| NG_016980.1:g.5059C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.11C>G MANE Select | ENSP00000316605.5:p.Ser4Trp | |
| ENST00000681746.1:c.11C>G | ENSP00000505959.1:p.Ser4Trp | |
| ENST00000320005.5:c.11C>G | ENSP00000316605.5:p.Ser4Trp | |
| NM_019098.4:c.11C>G | NP_061971.3:p.Ser4Trp | |
| NM_019098.5:c.11C>G MANE Select | NP_061971.3:p.Ser4Trp |