Revel Score:
ENST00000221930 (MANE Select)
0.654
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41342230G>A , CM000681.2:g.41342230G>A | GRCh38 |
| NC_000019.9:g.41848135G>A , CM000681.1:g.41848135G>A | GRCh37 |
| NC_000019.8:g.46539975G>A | NCBI36 |
| NG_013364.1:g.16697C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221930.6:c.652C>T MANE Select | ENSP00000221930.4:p.Arg218Cys | |
| ENST00000600196.2:c.652C>T | ENSP00000504008.1:p.Arg218Cys | |
| ENST00000677934.1:c.634+2517C>T | ENSP00000504769.1:n.634+2517C>T | |
| ENST00000221930.5:c.652C>T | ENSP00000221930.4:p.Arg218Cys | |
| ENST00000597453.1:n.183C>T | ||
| ENST00000600196.1:n.112C>T | ||
| NM_000660.5:c.652C>T | NP_000651.3:p.Arg218Cys | |
| XM_011527242.1:c.652C>T | XP_011525544.1:p.Arg218Cys | |
| NM_000660.6:c.652C>T | NP_000651.3:p.Arg218Cys | |
| XM_011527242.2:c.652C>T | XP_011525544.1:p.Arg218Cys | |
| NM_000660.7:c.652C>T MANE Select | NP_000651.3:p.Arg218Cys |