Revel Score:
ENST00000370192 (MANE Select)
0.708
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.97691781T>G , CM000663.2:g.97691781T>G | GRCh38 |
| NC_000001.10:g.98157337T>G , CM000663.1:g.98157337T>G | GRCh37 |
| NC_000001.9:g.97929925T>G | NCBI36 |
| NG_008807.2:g.234279A>C , LRG_722:g.234279A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370192.8:c.698A>C MANE Select | ENSP00000359211.3:p.Gln233Pro | |
| ENST00000370192.7:c.698A>C | ENSP00000359211.3:p.Gln233Pro | |
| ENST00000474241.1:n.462A>C | ||
| NM_000110.3:c.698A>C , LRG_722t1:c.698A>C | NP_000101.2:p.Gln233Pro | |
| XM_005270562.3:c.698A>C | XP_005270619.2:p.Gln233Pro | |
| XM_006710397.2:c.698A>C | XP_006710460.1:p.Gln233Pro | |
| XM_006710397.3:c.698A>C | XP_006710460.1:p.Gln233Pro | |
| XM_017000507.1:c.587A>C | XP_016855996.1:p.Gln196Pro | |
| XM_017000508.2:c.203A>C | XP_016855997.1:p.Gln68Pro | |
| XM_017000509.2:c.203A>C | XP_016855998.1:p.Gln68Pro | |
| XM_017000510.1:c.203A>C | XP_016855999.1:p.Gln68Pro | |
| NM_000110.4:c.698A>C MANE Select | NP_000101.2:p.Gln233Pro |