Revel Score:
ENST00000264381 (MANE Select)
0.186
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165830415G>T , CM000665.2:g.165830415G>T | GRCh38 |
| NC_000003.11:g.165548203G>T , CM000665.1:g.165548203G>T | GRCh37 |
| NC_000003.10:g.167030897G>T | NCBI36 |
| NG_009031.1:g.12051C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264381.8:c.619C>A MANE Select | ENSP00000264381.3:p.Gln207Lys | |
| ENST00000264381.7:c.619C>A | ENSP00000264381.3:p.Gln207Lys | |
| ENST00000479451.5:c.107+6899C>A | ENSP00000418325.1:n.107+6899C>A | |
| ENST00000482958.1:c.619C>A | ENSP00000419804.1:p.Gln207Lys | |
| ENST00000488954.1:c.107+6899C>A | ENSP00000418504.1:n.107+6899C>A | |
| ENST00000497011.5:c.619C>A | ENSP00000419505.1:p.Gln207Lys | |
| NM_000055.2:c.619C>A | NP_000046.1:p.Gln207Lys | |
| XM_005247685.1:c.742C>A | XP_005247742.1:p.Gln248Lys | |
| NM_000055.3:c.619C>A | NP_000046.1:p.Gln207Lys | |
| NR_137635.1:n.159+6899C>A | ||
| NR_137636.1:n.786C>A | ||
| NM_000055.4:c.619C>A MANE Select | NP_000046.1:p.Gln207Lys | |
| NR_137635.2:n.110+6899C>A | ||
| NR_137636.2:n.737C>A |