Revel Score:
ENST00000316623 (MANE Select)
0.956
ENST00000389087
0.956
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48430742T>A , CM000677.2:g.48430742T>A | GRCh38 |
| NC_000015.9:g.48722939T>A , CM000677.1:g.48722939T>A | GRCh37 |
| NC_000015.8:g.46510231T>A | NCBI36 |
| NG_008805.2:g.220047A>T , LRG_778:g.220047A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.6800A>T | ENSP00000453958.2:p.Asn2267Ile | |
| ENST00000674301.2:c.*251A>T | ENSP00000501333.2:n.*251A>T | |
| ENST00000682170.1:n.409A>T | ||
| ENST00000316623.10:c.6800A>T MANE Select | ENSP00000325527.5:p.Asn2267Ile | |
| ENST00000674301.1:c.1904A>T | ENSP00000501333.1:n.1904A>T | |
| ENST00000316623.9:c.6800A>T | ENSP00000325527.5:p.Asn2267Ile | |
| ENST00000559133.5:c.2107A>T | ||
| ENST00000560720.1:n.87A>T | ||
| NM_000138.4:c.6800A>T , LRG_778t1:c.6800A>T | NP_000129.3:p.Asn2267Ile | |
| NM_000138.5:c.6800A>T MANE Select | NP_000129.3:p.Asn2267Ile |