Revel Score:
ENST00000320868 (MANE Select)
0.961
ENST00000397797
0.961
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177293A>G , CM000678.2:g.177293A>G | GRCh38 |
| NC_000016.9:g.227292A>G , CM000678.1:g.227292A>G | GRCh37 |
| NC_000016.8:g.167292A>G | NCBI36 |
| NG_000006.1:g.38156A>G | |
| NG_059186.1:g.5643A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.311A>G MANE Select | ENSP00000322421.5:p.His104Arg | |
| ENST00000397797.1:c.215A>G | ENSP00000380899.1:p.His72Arg | |
| ENST00000472694.1:n.447A>G | ||
| NM_000558.4:c.311A>G | NP_000549.1:p.His104Arg | |
| NM_000558.5:c.311A>G MANE Select | NP_000549.1:p.His104Arg |