Revel Score:
ENST00000540732
0.917
ENST00000269980 (MANE Select)
0.917
ENST00000542943
0.917
ENST00000457836
0.917
ENST00000378196
0.917
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002977 (EAS)
Exomes Max Group AF
0.00002003 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41422634C>G , CM000681.2:g.41422634C>G | GRCh38 |
| NC_000019.9:g.41928539C>G , CM000681.1:g.41928539C>G | GRCh37 |
| NC_000019.8:g.46620379C>G | NCBI36 |
| NG_013004.1:g.29846C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.859C>G MANE Select | ENSP00000269980.2:p.Arg287Gly | |
| ENST00000269980.6:c.859C>G | ENSP00000269980.2:p.Arg287Gly | |
| ENST00000457836.6:c.793C>G | ENSP00000416000.2:p.Arg265Gly | |
| ENST00000535632.5:n.488C>G | ||
| ENST00000540732.3:c.961C>G | ENSP00000443246.1:p.Arg321Gly | |
| ENST00000542943.5:c.772C>G | ENSP00000440345.1:p.Arg258Gly | |
| ENST00000545787.1:n.487C>G | ||
| ENST00000595085.5:c.859C>G | ENSP00000471150.2:p.Arg287Gly | |
| NM_000709.3:c.859C>G | NP_000700.1:p.Arg287Gly | |
| NM_001164783.1:c.856C>G | NP_001158255.1:p.Arg286Gly | |
| NM_000709.4:c.859C>G MANE Select | NP_000700.1:p.Arg287Gly | |
| NM_001164783.2:c.856C>G | NP_001158255.1:p.Arg286Gly |