Revel Score:
ENST00000370192 (MANE Select)
0.894
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.97079121T>C , CM000663.2:g.97079121T>C | GRCh38 |
| NC_000001.10:g.97544677T>C , CM000663.1:g.97544677T>C | GRCh37 |
| NC_000001.9:g.97317265T>C | NCBI36 |
| NG_008807.2:g.846939A>G , LRG_722:g.846939A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370192.8:c.2933A>G MANE Select | ENSP00000359211.3:p.His978Arg | |
| ENST00000370192.7:c.2933A>G | ENSP00000359211.3:p.His978Arg | |
| NM_000110.3:c.2933A>G , LRG_722t1:c.2933A>G | NP_000101.2:p.His978Arg | |
| XM_005270562.3:c.2717A>G | XP_005270619.2:p.His906Arg | |
| XM_017000507.1:c.2822A>G | XP_016855996.1:p.His941Arg | |
| XM_017000508.2:c.2438A>G | XP_016855997.1:p.His813Arg | |
| XM_017000509.2:c.2438A>G | XP_016855998.1:p.His813Arg | |
| XM_017000510.1:c.2438A>G | XP_016855999.1:p.His813Arg | |
| NM_000110.4:c.2933A>G MANE Select | NP_000101.2:p.His978Arg |