Revel Score:
ENST00000540732
0.836
ENST00000269980 (MANE Select)
0.836
ENST00000542943
0.836
ENST00000457836
0.836
ENST00000378196
0.836
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41422278C>G , CM000681.2:g.41422278C>G | GRCh38 |
| NC_000019.9:g.41928183C>G , CM000681.1:g.41928183C>G | GRCh37 |
| NC_000019.8:g.46620023C>G | NCBI36 |
| NG_013004.1:g.29490C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.761C>G MANE Select | ENSP00000269980.2:p.Ala254Gly | |
| ENST00000269980.6:c.761C>G | ENSP00000269980.2:p.Ala254Gly | |
| ENST00000457836.6:c.695C>G | ENSP00000416000.2:p.Ala232Gly | |
| ENST00000535632.5:n.390C>G | ||
| ENST00000540732.3:c.863C>G | ENSP00000443246.1:p.Ala288Gly | |
| ENST00000542943.5:c.674C>G | ENSP00000440345.1:p.Ala225Gly | |
| ENST00000545787.1:n.389C>G | ||
| ENST00000595085.5:c.761C>G | ENSP00000471150.2:p.Ala254Gly | |
| NM_000709.3:c.761C>G | NP_000700.1:p.Ala254Gly | |
| NM_001164783.1:c.761C>G | NP_001158255.1:p.Ala254Gly | |
| NM_000709.4:c.761C>G MANE Select | NP_000700.1:p.Ala254Gly | |
| NM_001164783.2:c.761C>G | NP_001158255.1:p.Ala254Gly |