Revel Score:
ENST00000303941 (MANE Select)
0.078
gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113399438A>C , CM000673.2:g.113399438A>C | GRCh38 |
| NC_000011.9:g.113270160A>C , CM000673.1:g.113270160A>C | GRCh37 |
| NC_000011.8:g.112775370A>C | NCBI36 |
| NG_012976.1:g.16648A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303941.4:c.1469A>C MANE Select | ENSP00000306678.3:p.His490Pro | |
| ENST00000303941.3:c.1469A>C | ENSP00000306678.3:p.His490Pro | |
| NM_178510.1:c.1469A>C | NP_848605.1:p.His490Pro | |
| XM_011542736.1:c.1502A>C | XP_011541038.1:p.His501Pro | |
| XM_011542737.1:c.1472A>C | XP_011541039.1:p.His491Pro | |
| XM_011542738.1:c.1280A>C | XP_011541040.1:p.His427Pro | |
| XM_011542736.2:c.1502A>C | XP_011541038.1:p.His501Pro | |
| XM_011542737.2:c.1472A>C | XP_011541039.1:p.His491Pro | |
| XM_011542738.2:c.1280A>C | XP_011541040.1:p.His427Pro | |
| XM_017017475.1:c.1499A>C | XP_016872964.1:p.His500Pro | |
| NM_178510.2:c.1469A>C MANE Select | NP_848605.1:p.His490Pro |