Revel Score:
ENST00000426333 (MANE Select)
0.931
ENST00000262414
0.931
ENST00000402521
0.931
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44879635T>C , CM000679.2:g.44879635T>C | GRCh38 |
| NC_000017.10:g.42957003T>C , CM000679.1:g.42957003T>C | GRCh37 |
| NC_000017.9:g.40312529T>C | NCBI36 |
| NG_032674.1:g.24991A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426333.7:c.623A>G MANE Select | ENSP00000392094.1:p.His208Arg | |
| ENST00000402521.7:c.518A>G | ENSP00000385873.2:p.His173Arg | |
| ENST00000426333.6:c.623A>G | ENSP00000392094.1:p.His208Arg | |
| ENST00000588374.1:c.433A>G | ENSP00000467639.1:n.433A>G | |
| ENST00000589475.1:n.81A>G | ||
| ENST00000591382.5:c.623A>G | ENSP00000467805.1:p.His208Arg | |
| ENST00000592576.5:c.593A>G | ENSP00000465058.1:p.His198Arg | |
| ENST00000593200.5:n.244A>G | ||
| NM_001142605.1:c.518A>G | NP_001136077.1:p.His173Arg | |
| NM_001258353.1:c.623A>G | NP_001245282.1:p.His208Arg | |
| NM_001258354.1:c.593A>G | NP_001245283.1:p.His198Arg | |
| NM_004247.3:c.623A>G | NP_004238.3:p.His208Arg | |
| XR_934602.1:n.708A>G | ||
| XR_934602.3:n.704A>G | ||
| NM_004247.4:c.623A>G MANE Select | NP_004238.3:p.His208Arg | |
| NM_001142605.2:c.518A>G | NP_001136077.1:p.His173Arg | |
| NM_001258353.2:c.623A>G | NP_001245282.1:p.His208Arg | |
| NM_001258354.2:c.593A>G | NP_001245283.1:p.His198Arg |