Revel Score:
ENST00000378802 (MANE Select)
0.846
ENST00000274118
0.846
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00031291 (EAS)
Exomes Max Group AF
0.00033344 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186205204A>C , CM000666.2:g.186205204A>C | GRCh38 |
| NC_000004.11:g.187126358A>C , CM000666.1:g.187126358A>C | GRCh37 |
| NC_000004.10:g.187363352A>C | NCBI36 |
| NG_007965.1:g.18685A>C | |
| NG_012095.2:g.1226A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.992A>C MANE Select | ENSP00000368079.4:p.His331Pro | |
| ENST00000378802.4:c.992A>C | ENSP00000368079.4:p.His331Pro | |
| ENST00000502665.1:n.227A>C | ||
| ENST00000507209.5:n.5690A>C | ||
| ENST00000513354.5:n.82A>C | ||
| NM_207352.3:c.992A>C | NP_997235.3:p.His331Pro | |
| XM_005262935.2:c.992A>C | XP_005262992.1:p.His331Pro | |
| XM_006714184.2:c.596A>C | XP_006714247.1:p.His199Pro | |
| XM_005262935.4:c.992A>C | XP_005262992.1:p.His331Pro | |
| XM_017008037.1:c.596A>C | XP_016863526.1:p.His199Pro | |
| NM_207352.4:c.992A>C MANE Select | NP_997235.3:p.His331Pro |