Revel Score:
ENST00000528176
0.969
ENST00000307998 (MANE Select)
0.969
ENST00000526624
0.969
ENST00000527378
0.969
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65870649T>A , CM000673.2:g.65870649T>A | GRCh38 |
| NC_000011.9:g.65638120T>A , CM000673.1:g.65638120T>A | GRCh37 |
| NC_000011.8:g.65394696T>A | NCBI36 |
| NG_012304.2:g.7286A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307998.11:c.377A>T MANE Select | ENSP00000309953.6:p.Glu126Val | |
| ENST00000307998.10:c.377A>T | ENSP00000309953.6:p.Glu126Val | |
| ENST00000526624.5:c.377A>T | ENSP00000435419.1:p.Glu126Val | |
| ENST00000527378.1:c.377A>T | ENSP00000435963.1:p.Glu126Val | |
| ENST00000527969.1:n.56A>T | ||
| ENST00000528176.5:c.377A>T | ENSP00000434151.1:p.Glu126Val | |
| ENST00000530850.1:c.*189A>T | ENSP00000437238.1:n.*189A>T | |
| ENST00000531005.5:n.1371A>T | ||
| ENST00000531972.5:c.377A>T | ENSP00000435295.1:p.Glu126Val | |
| ENST00000533347.5:c.*189A>T | ENSP00000435823.1:n.*189A>T | |
| NM_016938.4:c.377A>T | NP_058634.4:p.Glu126Val | |
| NR_037718.1:n.636A>T | ||
| NM_016938.5:c.377A>T MANE Select | NP_058634.4:p.Glu126Val | |
| NR_037718.2:n.502A>T |