Revel Score:
ENST00000282185 (MANE Select)
0.049
ENST00000458350
0.049
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.92980853 (EAS)
Genomes Max Group AF
0.89017879 (EAS)
Exomes Max Group AF
0.93266315 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.82253421C>A , CM000667.2:g.82253421C>A | GRCh38 |
| NC_000005.9:g.81549240C>A , CM000667.1:g.81549240C>A | GRCh37 |
| NC_000005.8:g.81584996C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282185.8:c.659C>A MANE Select | ENSP00000282185.3:p.Pro220His | |
| ENST00000282185.7:c.659C>A | ENSP00000282185.3:p.Pro220His | |
| ENST00000458350.7:c.659C>A | ENSP00000404938.3:p.Pro220His | |
| ENST00000504770.5:c.*229C>A | ENSP00000424236.1:n.*229C>A | |
| ENST00000508814.5:n.260+762C>A | ||
| ENST00000514253.2:n.192-22724C>A | ||
| NM_001131028.1:c.659C>A | NP_001124500.1:p.Pro220His | |
| NM_031482.4:c.659C>A | NP_113670.1:p.Pro220His | |
| XM_005248610.3:c.659C>A | XP_005248667.1:p.Pro220His | |
| XM_005248611.3:c.659C>A | XP_005248668.1:p.Pro220His | |
| XM_005248612.2:c.551C>A | XP_005248669.1:p.Pro184His | |
| XM_011543660.1:c.533C>A | XP_011541962.1:p.Pro178His | |
| XM_011543661.1:c.449C>A | XP_011541963.1:p.Pro150His | |
| XM_005248610.5:c.659C>A | XP_005248667.1:p.Pro220His | |
| XM_005248611.5:c.659C>A | XP_005248668.1:p.Pro220His | |
| XM_005248612.3:c.551C>A | XP_005248669.1:p.Pro184His | |
| XM_011543660.2:c.533C>A | XP_011541962.1:p.Pro178His | |
| XM_011543661.2:c.449C>A | XP_011541963.1:p.Pro150His | |
| XM_017009944.1:c.551C>A | XP_016865433.1:p.Pro184His | |
| NM_031482.5:c.659C>A MANE Select | NP_113670.1:p.Pro220His | |
| NM_001131028.2:c.659C>A | NP_001124500.1:p.Pro220His |