Revel Score:
ENST00000326856
0.168
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50826720G>C , CM000681.2:g.50826720G>C | GRCh38 |
| NC_000019.9:g.51329976G>C , CM000681.1:g.51329976G>C | GRCh37 |
| NC_000019.8:g.56021788G>C | NCBI36 |
| NG_012094.1:g.2068C>G | |
| NG_029894.1:g.9804C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000598239.6:c.519C>G MANE Select | ENSP00000469315.1:p.Ser173Arg | |
| ENST00000695963.1:n.247C>G | ||
| ENST00000695964.1:n.209+276C>G | ||
| ENST00000695965.1:c.363+276C>G | ENSP00000512291.1:n.363+276C>G | |
| ENST00000695998.1:c.516C>G | ENSP00000512319.1:p.Ser172Arg | |
| ENST00000326856.8:c.516C>G | ENSP00000314783.4:p.Ser172Arg | |
| ENST00000596531.1:n.432C>G | ||
| ENST00000596931.5:c.478+158C>G | ENSP00000471164.1:n.478+158C>G | |
| ENST00000598239.5:c.519C>G | ENSP00000469315.1:p.Ser173Arg | |
| ENST00000601680.1:n.639C>G | ||
| ENST00000602114.1:c.*35C>G | ENSP00000468856.1:n.*35C>G | |
| NM_001277081.1:c.516C>G | NP_001264010.1:p.Ser172Arg | |
| NM_001277082.1:c.478+158C>G | NP_001264011.1:n.478+158C>G | |
| NM_017509.3:c.519C>G | NP_059979.2:p.Ser173Arg | |
| NR_102274.1:n.429C>G | ||
| XM_006723265.2:c.519C>G | XP_006723328.1:p.Ser173Arg | |
| XM_011527083.1:c.519C>G | XP_011525385.1:p.Ser173Arg | |
| XM_011527084.1:c.519C>G | XP_011525386.1:p.Ser173Arg | |
| XM_011527085.1:c.516C>G | XP_011525387.1:p.Ser172Arg | |
| XM_011527086.1:c.516C>G | XP_011525388.1:p.Ser172Arg | |
| XM_011527087.1:c.363+276C>G | XP_011525389.1:n.363+276C>G | |
| XM_011527088.1:c.481+158C>G | XP_011525390.1:n.481+158C>G | |
| XM_011527089.1:c.478+158C>G | XP_011525391.1:n.478+158C>G | |
| XM_011527090.1:c.519C>G | XP_011525392.1:p.Ser173Arg | |
| XM_006723265.3:c.519C>G | XP_006723328.1:p.Ser173Arg | |
| XM_011527085.2:c.516C>G | XP_011525387.1:p.Ser172Arg | |
| XM_011527087.2:c.363+276C>G | XP_011525389.1:n.363+276C>G | |
| XM_011527088.2:c.481+158C>G | XP_011525390.1:n.481+158C>G | |
| XM_011527089.2:c.478+158C>G | XP_011525391.1:n.478+158C>G | |
| XM_017026943.1:c.*35C>G | XP_016882432.1:n.*35C>G | |
| XR_001753713.1:n.1240C>G | ||
| NM_001277081.2:c.516C>G | NP_001264010.1:p.Ser172Arg | |
| NM_001277082.2:c.478+158C>G | NP_001264011.1:n.478+158C>G | |
| NM_017509.4:c.519C>G MANE Select | NP_059979.2:p.Ser173Arg |