Revel Score:
ENST00000320868 (MANE Select)
0.931
ENST00000397797
0.931
gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177293A>C , CM000678.2:g.177293A>C | GRCh38 |
| NC_000016.9:g.227292A>C , CM000678.1:g.227292A>C | GRCh37 |
| NC_000016.8:g.167292A>C | NCBI36 |
| NG_000006.1:g.38156A>C | |
| NG_059186.1:g.5643A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.311A>C MANE Select | ENSP00000322421.5:p.His104Pro | |
| ENST00000397797.1:c.215A>C | ENSP00000380899.1:p.His72Pro | |
| ENST00000472694.1:n.447A>C | ||
| NM_000558.4:c.311A>C | NP_000549.1:p.His104Pro | |
| NM_000558.5:c.311A>C MANE Select | NP_000549.1:p.His104Pro |