Revel Score:
ENST00000217289 (MANE Select)
0.881
ENST00000536936
0.881
ENST00000339538
0.881
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6097592T>C , CM000682.2:g.6097592T>C | GRCh38 |
| NC_000020.10:g.6078239T>C , CM000682.1:g.6078239T>C | GRCh37 |
| NC_000020.9:g.6026239T>C | NCBI36 |
| NG_016213.1:g.30953A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699095.1:c.889A>G | ENSP00000514127.1:p.Arg297Gly | |
| ENST00000699096.1:n.1351A>G | ||
| ENST00000699097.1:n.59A>G | ||
| ENST00000217289.9:c.889A>G MANE Select | ENSP00000217289.4:p.Arg297Gly | |
| ENST00000217289.8:c.889A>G | ENSP00000217289.4:p.Arg297Gly | |
| ENST00000536936.1:c.118A>G | ENSP00000441063.1:p.Arg40Gly | |
| NM_017671.4:c.889A>G | NP_060141.3:p.Arg297Gly | |
| XM_024451935.1:c.889A>G | XP_024307703.1:p.Arg297Gly | |
| NM_017671.5:c.889A>G MANE Select | NP_060141.3:p.Arg297Gly |