Revel Score:
ENST00000394236 (MANE Select)
0.530
ENST00000407433
0.530
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00027704 (EAS)
Genomes Max Group AF
0.00026337 (EAS)
Exomes Max Group AF
0.00023319 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93886430G>T , CM000665.2:g.93886430G>T | GRCh38 |
| NC_000003.11:g.93605274G>T , CM000665.1:g.93605274G>T | GRCh37 |
| NC_000003.10:g.95087964G>T | NCBI36 |
| NG_009813.1:g.92661C>A , LRG_572:g.92661C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348974.5:c.1229C>A | ENSP00000330021.7:p.Pro410His | |
| ENST00000394236.9:c.1229C>A MANE Select | ENSP00000377783.3:p.Pro410His | |
| ENST00000407433.6:c.1184C>A | ENSP00000385794.2:p.Pro395His | |
| ENST00000647936.1:c.1229C>A | ENSP00000496822.1:p.Pro410His | |
| ENST00000648381.1:n.1397C>A | ||
| ENST00000648853.1:c.1187C>A | ENSP00000497262.1:p.Pro396His | |
| ENST00000649103.1:c.1328C>A | ENSP00000497962.1:n.1328C>A | |
| ENST00000650591.1:c.1325C>A | ENSP00000497376.1:p.Pro442His | |
| ENST00000394236.7:c.1229C>A | ENSP00000377783.3:p.Pro410His | |
| ENST00000407433.5:c.836C>A | ENSP00000385794.1:p.Pro279His | |
| NM_000313.3:c.1229C>A , LRG_572t1:c.1229C>A | NP_000304.2:p.Pro410His | |
| NM_001314077.1:c.1325C>A , LRG_572t2:c.1325C>A | NP_001301006.1:p.Pro442His | |
| NM_000313.4:c.1229C>A MANE Select | NP_000304.2:p.Pro410His | |
| NM_001314077.2:c.1325C>A | NP_001301006.1:p.Pro442His |