Revel Score:
ENST00000268125 (MANE Select)
0.748
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000429 (NFE)
Exomes Max Group AF
0.00000455 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89215133C>G , CM000677.2:g.89215133C>G | GRCh38 |
| NC_000015.9:g.89758364C>G , CM000677.1:g.89758364C>G | GRCh37 |
| NC_000015.8:g.87559368C>G | NCBI36 |
| NG_008116.1:g.11559G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268125.10:c.452G>C MANE Select | ENSP00000268125.5:p.Arg151Pro | |
| ENST00000268125.9:c.452G>C | ENSP00000268125.5:p.Arg151Pro | |
| ENST00000567787.1:c.*30G>C | ENSP00000457251.1:n.*30G>C | |
| NM_000326.4:c.452G>C | NP_000317.1:p.Arg151Pro | |
| XM_011521870.1:c.452G>C | XP_011520172.1:p.Arg151Pro | |
| XM_011521871.1:c.377G>C | XP_011520173.1:p.Arg126Pro | |
| XM_011521872.1:c.377G>C | XP_011520174.1:p.Arg126Pro | |
| XM_011521870.2:c.452G>C | XP_011520172.1:p.Arg151Pro | |
| XM_017022460.1:c.479G>C | XP_016877949.1:p.Arg160Pro | |
| NM_000326.5:c.452G>C MANE Select | NP_000317.1:p.Arg151Pro |