Revel Score:
ENST00000219097 (MANE Select)
0.404
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.46689707T>A , CM000678.2:g.46689707T>A | GRCh38 |
| NC_000016.9:g.46723619T>A , CM000678.1:g.46723619T>A | GRCh37 |
| NC_000016.8:g.45281120T>A | NCBI36 |
| NG_028241.1:g.5062T>A | |
| NG_029970.1:g.4526A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219097.7:c.2T>A MANE Select | ENSP00000219097.2:p.Met1Lys | |
| ENST00000219097.6:c.2T>A | ENSP00000219097.2:p.Met1Lys | |
| ENST00000563306.5:n.26T>A | ||
| ENST00000563599.5:c.2T>A | ENSP00000454299.1:p.Met1Lys | |
| ENST00000568364.6:c.2T>A | ENSP00000457282.2:p.Met1Lys | |
| ENST00000569239.5:n.49T>A | ||
| ENST00000570260.2:n.1T>A | ||
| NM_014321.3:c.2T>A | NP_055136.1:p.Met1Lys | |
| NR_037620.1:n.62T>A | ||
| XM_011522978.1:c.2T>A | XP_011521280.1:p.Met1Lys | |
| XM_011522978.3:c.2T>A | XP_011521280.1:p.Met1Lys | |
| NM_014321.4:c.2T>A MANE Select | NP_055136.1:p.Met1Lys | |
| NR_037620.2:n.49T>A |