Revel Score:
ENST00000340855 (MANE Select)
0.983
ENST00000541269
0.983
ENST00000370441
0.983
ENST00000370443
0.983
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149498129T>C , CM000685.2:g.149498129T>C | GRCh38 |
| NC_000023.10:g.148579660T>C , CM000685.1:g.148579660T>C | GRCh37 |
| NC_000023.9:g.148387565T>C | NCBI36 |
| NG_011900.3:g.12206A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.686A>G MANE Select | ENSP00000339801.6:p.His229Arg | |
| ENST00000651111.1:c.53A>G | ENSP00000498395.1:p.His18Arg | |
| ENST00000340855.10:c.686A>G | ENSP00000339801.6:p.His229Arg | |
| ENST00000370441.8:c.686A>G | ENSP00000359470.4:p.His229Arg | |
| ENST00000422081.6:c.53A>G | ENSP00000477056.1:p.His18Arg | |
| ENST00000441880.1:n.114-11031A>G | ||
| ENST00000464251.5:c.612A>G | ENSP00000428980.1:n.612A>G | |
| ENST00000466019.1:n.138A>G | ||
| ENST00000466323.5:c.686A>G | ENSP00000418264.1:p.His229Arg | |
| ENST00000490775.5:n.471A>G | ||
| NM_000202.6:c.686A>G | NP_000193.1:p.His229Arg | |
| NM_001166550.2:c.416A>G | NP_001160022.1:p.His139Arg | |
| NM_006123.4:c.686A>G | NP_006114.1:p.His229Arg | |
| NR_104128.1:n.903A>G | ||
| NM_000202.7:c.686A>G | NP_000193.1:p.His229Arg | |
| NM_001166550.3:c.416A>G | NP_001160022.1:p.His139Arg | |
| NM_000202.8:c.686A>G MANE Select | NP_000193.1:p.His229Arg | |
| NM_001166550.4:c.416A>G | NP_001160022.1:p.His139Arg | |
| NM_006123.5:c.686A>G | NP_006114.1:p.His229Arg | |
| NR_104128.2:n.855A>G |