Revel Score:
ENST00000335295 (MANE Select)
0.974
ENST00000380315
0.974
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226783G>T , CM000673.2:g.5226783G>T | GRCh38 |
| NC_000011.9:g.5248013G>T , CM000673.1:g.5248013G>T | GRCh37 |
| NC_000011.8:g.5204589G>T | NCBI36 |
| NG_000007.3:g.70833C>A | |
| NG_059281.1:g.5289C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.109C>A | ENSP00000494175.1:p.Pro37Thr | |
| ENST00000335295.4:c.109C>A MANE Select | ENSP00000333994.3:p.Pro37Thr | |
| ENST00000380315.2:c.109C>A | ENSP00000369671.2:p.Pro37Thr | |
| ENST00000475226.1:n.41C>A | ||
| ENST00000485743.1:n.160C>A | ||
| ENST00000633227.1:c.93C>A | ENSP00000488004.1:p.Thr31= | |
| NM_000518.4:c.109C>A | NP_000509.1:p.Pro37Thr | |
| NM_000518.5:c.109C>A MANE Select | NP_000509.1:p.Pro37Thr |