Revel Score:
ENST00000378970 (MANE Select)
0.911
ENST00000378963
0.911
ENST00000453287
0.911
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30308257C>G , CM000685.2:g.30308257C>G | GRCh38 |
| NC_000023.10:g.30326374C>G , CM000685.1:g.30326374C>G | GRCh37 |
| NC_000023.9:g.30236295C>G | NCBI36 |
| NG_009814.1:g.6122G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378970.5:c.1107G>C MANE Select | ENSP00000368253.4:p.Trp369Cys | |
| ENST00000378963.1:c.222G>C | ENSP00000368246.1:p.Trp74Cys | |
| ENST00000378970.4:c.1107G>C | ENSP00000368253.4:p.Trp369Cys | |
| NM_000475.4:c.1107G>C | NP_000466.2:p.Trp369Cys | |
| NM_000475.5:c.1107G>C MANE Select | NP_000466.2:p.Trp369Cys |