Revel Score:
ENST00000299766 (MANE Select)
0.518
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.60371403A>T , CM000680.2:g.60371403A>T | GRCh38 |
| NC_000018.9:g.58038636A>T , CM000680.1:g.58038636A>T | GRCh37 |
| NC_000018.8:g.56189616A>T | NCBI36 |
| NG_016441.1:g.6366T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299766.5:c.947T>A MANE Select | ENSP00000299766.3:p.Ile316Asn | |
| ENST00000299766.4:c.947T>A | ENSP00000299766.3:p.Ile316Asn | |
| NM_005912.2:c.947T>A | NP_005903.2:p.Ile316Asn | |
| NM_005912.3:c.947T>A MANE Select | NP_005903.2:p.Ile316Asn |