Revel Score:
ENST00000374695 (MANE Select)
0.070
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.10655831 (SAS)
Genomes Max Group AF
0.09674188 (SAS)
Exomes Max Group AF
0.10673564 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21842352A>T , CM000663.2:g.21842352A>T | GRCh38 |
| NC_000001.10:g.22168845A>T , CM000663.1:g.22168845A>T | GRCh37 |
| NC_000001.9:g.22041432A>T | NCBI36 |
| NG_016740.1:g.99906T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.8939T>A MANE Select | ENSP00000363827.3:p.Leu2980His | |
| ENST00000374695.7:c.8939T>A | ENSP00000363827.3:p.Leu2980His | |
| NM_001291860.1:c.8942T>A | NP_001278789.1:p.Leu2981His | |
| NM_005529.6:c.8939T>A | NP_005520.4:p.Leu2980His | |
| XM_006710594.2:c.9485T>A | XP_006710657.1:p.Leu3162His | |
| XM_006710595.2:c.9437T>A | XP_006710658.1:p.Leu3146His | |
| XM_006710596.2:c.9416T>A | XP_006710659.1:p.Leu3139His | |
| XM_006710597.2:c.8939T>A | XP_006710660.1:p.Leu2980His | |
| XM_011541317.1:c.9488T>A | XP_011539619.1:p.Leu3163His | |
| XM_011541318.1:c.9488T>A | XP_011539620.1:p.Leu3163His | |
| XM_011541319.1:c.9488T>A | XP_011539621.1:p.Leu3163His | |
| XM_011541320.1:c.9209T>A | XP_011539622.1:p.Leu3070His | |
| XM_011541321.1:c.8993T>A | XP_011539623.1:p.Leu2998His | |
| XM_011541318.2:c.9488T>A | XP_011539620.1:p.Leu3163His | |
| XM_017001120.1:c.9134T>A | XP_016856609.1:p.Leu3045His | |
| XM_017001121.1:c.9083T>A | XP_016856610.1:p.Leu3028His | |
| XM_017001122.1:c.9080T>A | XP_016856611.1:p.Leu3027His | |
| NM_005529.7:c.8939T>A MANE Select | NP_005520.4:p.Leu2980His | |
| NM_001291860.2:c.8942T>A | NP_001278789.1:p.Leu2981His |