Revel Score:
ENST00000271588 (MANE Select)
0.715
ENST00000367492
0.715
ENST00000414277
0.715
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186172060C>A , CM000663.2:g.186172060C>A | GRCh38 |
| NC_000001.10:g.186141192C>A , CM000663.1:g.186141192C>A | GRCh37 |
| NC_000001.9:g.184407815C>A | NCBI36 |
| NG_011841.1:g.442510C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.15743C>A MANE Select | ENSP00000271588.4:p.Thr5248Asn | |
| ENST00000271588.8:c.15743C>A | ENSP00000271588.4:p.Thr5248Asn | |
| ENST00000414277.1:c.119C>A | ENSP00000406205.1:p.Thr40Asn | |
| ENST00000475585.1:n.331C>A | ||
| NM_031935.2:c.15743C>A | NP_114141.2:p.Thr5248Asn | |
| XM_011510037.1:c.15458C>A | XP_011508339.1:p.Thr5153Asn | |
| XM_011510038.1:c.15743C>A | XP_011508340.1:p.Thr5248Asn | |
| XM_011510038.3:c.15743C>A | XP_011508340.1:p.Thr5248Asn | |
| XM_017002437.1:c.13766C>A | XP_016857926.1:p.Thr4589Asn | |
| NM_031935.3:c.15743C>A MANE Select | NP_114141.2:p.Thr5248Asn |