Revel Score:
ENST00000271588 (MANE Select)
0.088
ENST00000367492
0.088
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186095387C>G , CM000663.2:g.186095387C>G | GRCh38 |
| NC_000001.10:g.186064519C>G , CM000663.1:g.186064519C>G | GRCh37 |
| NC_000001.9:g.184331142C>G | NCBI36 |
| NG_011841.1:g.365837C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.10439C>G MANE Select | ENSP00000271588.4:p.Ala3480Gly | |
| ENST00000271588.8:c.10439C>G | ENSP00000271588.4:p.Ala3480Gly | |
| NM_031935.2:c.10439C>G | NP_114141.2:p.Ala3480Gly | |
| XM_011510037.1:c.10154C>G | XP_011508339.1:p.Ala3385Gly | |
| XM_011510038.1:c.10439C>G | XP_011508340.1:p.Ala3480Gly | |
| XM_011510039.1:c.10439C>G | XP_011508341.1:p.Ala3480Gly | |
| XM_011510038.3:c.10439C>G | XP_011508340.1:p.Ala3480Gly | |
| XM_017002437.1:c.8462C>G | XP_016857926.1:p.Ala2821Gly | |
| XM_024450118.1:c.*87C>G | XP_024305886.1:n.*87C>G | |
| NM_031935.3:c.10439C>G MANE Select | NP_114141.2:p.Ala3480Gly |