Revel Score:
ENST00000358697 (MANE Select)
0.079
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.57908803T>G , CM000685.2:g.57908803T>G | GRCh38 |
| NC_000023.10:g.57935237T>G , CM000685.1:g.57935237T>G | GRCh37 |
| NC_000023.9:g.57951962T>G | NCBI36 |
| NG_015974.1:g.6831A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358697.6:c.1618A>C MANE Select | ENSP00000351530.4:p.Thr540Pro | |
| ENST00000358697.5:c.1618A>C | ENSP00000351530.4:p.Thr540Pro | |
| NM_007156.4:c.1618A>C | NP_009087.1:p.Thr540Pro | |
| NM_007156.5:c.1618A>C MANE Select | NP_009087.1:p.Thr540Pro |