Revel Score:
ENST00000335295 (MANE Select)
0.514
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225680T>A , CM000673.2:g.5225680T>A | GRCh38 |
| NC_000011.9:g.5246910T>A , CM000673.1:g.5246910T>A | GRCh37 |
| NC_000011.8:g.5203486T>A | NCBI36 |
| NG_000007.3:g.71936A>T | |
| NG_059281.1:g.6392A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.362A>T | ENSP00000494175.1:p.Lys121Ile | |
| ENST00000335295.4:c.362A>T MANE Select | ENSP00000333994.3:p.Lys121Ile | |
| ENST00000475226.1:n.294A>T | ||
| ENST00000633227.1:c.*178A>T | ENSP00000488004.1:n.*178A>T | |
| NM_000518.4:c.362A>T | NP_000509.1:p.Lys121Ile | |
| NM_000518.5:c.362A>T MANE Select | NP_000509.1:p.Lys121Ile |