Revel Score:
ENST00000438257 (MANE Select)
0.008
ENST00000557010
0.008
ENST00000422005
0.008
ENST00000555750
0.008
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.80203248T>C , CM000676.2:g.80203248T>C | GRCh38 |
| NC_000014.8:g.80669591T>C , CM000676.1:g.80669591T>C | GRCh37 |
| NC_000014.7:g.79739344T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000438257.9:c.263A>G MANE Select | ENSP00000405854.5:p.His88Arg | |
| ENST00000555750.2:c.*101A>G | ENSP00000450980.2:n.*101A>G | |
| ENST00000422005.7:c.*64A>G | ENSP00000411438.4:n.*64A>G | |
| ENST00000438257.8:c.263A>G | ENSP00000405854.4:p.His88Arg | |
| ENST00000555750.1:c.371A>G | ENSP00000450980.1:p.His124Arg | |
| ENST00000555844.1:c.347A>G | ||
| ENST00000556811.5:c.239A>G | ||
| ENST00000557010.5:c.263A>G | ENSP00000451419.1:p.His88Arg | |
| ENST00000557125.1:c.49-162A>G | ENSP00000450547.1:n.49-162A>G | |
| NM_000793.5:c.263A>G | NP_000784.2:p.His88Arg | |
| NM_001007023.3:c.371A>G | NP_001007024.1:p.His124Arg | |
| NM_001242502.1:c.*64A>G | NP_001229431.1:n.*64A>G | |
| NM_001242503.1:c.*64A>G | NP_001229432.1:n.*64A>G | |
| NM_013989.4:c.263A>G | NP_054644.1:p.His88Arg | |
| NM_000793.6:c.263A>G | NP_000784.3:p.His88Arg | |
| NM_001324462.2:c.263A>G | NP_001311391.2:p.His88Arg | |
| NM_001366496.1:c.263A>G | NP_001353425.1:p.His88Arg | |
| NM_013989.5:c.263A>G MANE Select | NP_054644.1:p.His88Arg | |
| NR_158990.1:n.403A>G | ||
| NR_158991.1:n.537A>G |