Revel Score:
ENST00000388922 (MANE Select)
0.221
ENST00000267008
0.221
ENST00000550683
0.221
ENST00000548659
0.221
ENST00000419526
0.221
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51920849C>G , CM000674.2:g.51920849C>G | GRCh38 |
| NC_000012.11:g.52314633C>G , CM000674.1:g.52314633C>G | GRCh37 |
| NC_000012.10:g.50600900C>G | NCBI36 |
| NG_009549.1:g.18432C>G , LRG_543:g.18432C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547400.6:c.1198C>G | ENSP00000446724.2:p.Gln400Glu | |
| ENST00000551576.6:c.1468C>G | ENSP00000455848.2:p.Gln490Glu | |
| ENST00000388922.9:c.1468C>G MANE Select | ENSP00000373574.4:p.Gln490Glu | |
| ENST00000388922.8:c.1468C>G | ENSP00000373574.4:p.Gln490Glu | |
| ENST00000419526.6:c.946C>G | ENSP00000392492.2:p.Gln316Glu | |
| ENST00000550683.5:c.1510C>G | ENSP00000447884.1:p.Gln504Glu | |
| NM_000020.2:c.1468C>G , LRG_543t1:c.1468C>G | NP_000011.2:p.Gln490Glu | |
| NM_001077401.1:c.1468C>G | NP_001070869.1:p.Gln490Glu | |
| XM_005269235.2:c.1468C>G | XP_005269292.1:p.Gln490Glu | |
| XM_011539008.1:c.1198C>G | XP_011537310.1:p.Gln400Glu | |
| XM_024449279.1:c.679C>G | XP_024305047.1:p.Gln227Glu | |
| NM_000020.3:c.1468C>G MANE Select | NP_000011.2:p.Gln490Glu | |
| NM_001077401.2:c.1468C>G | NP_001070869.1:p.Gln490Glu |