Revel Score:
ENST00000271588 (MANE Select)
0.662
ENST00000367492
0.662
ENST00000414277
0.662
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186172062C>A , CM000663.2:g.186172062C>A | GRCh38 |
| NC_000001.10:g.186141194C>A , CM000663.1:g.186141194C>A | GRCh37 |
| NC_000001.9:g.184407817C>A | NCBI36 |
| NG_011841.1:g.442512C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.15745C>A MANE Select | ENSP00000271588.4:p.Arg5249Ser | |
| ENST00000271588.8:c.15745C>A | ENSP00000271588.4:p.Arg5249Ser | |
| ENST00000414277.1:c.121C>A | ENSP00000406205.1:p.Arg41Ser | |
| ENST00000475585.1:n.333C>A | ||
| NM_031935.2:c.15745C>A | NP_114141.2:p.Arg5249Ser | |
| XM_011510037.1:c.15460C>A | XP_011508339.1:p.Arg5154Ser | |
| XM_011510038.1:c.15745C>A | XP_011508340.1:p.Arg5249Ser | |
| XM_011510038.3:c.15745C>A | XP_011508340.1:p.Arg5249Ser | |
| XM_017002437.1:c.13768C>A | XP_016857926.1:p.Arg4590Ser | |
| NM_031935.3:c.15745C>A MANE Select | NP_114141.2:p.Arg5249Ser |