Revel Score:
ENST00000262464 (MANE Select)
0.606
ENST00000508053
0.606
ENST00000502468
0.606
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00023422 (AMR)
Genomes Max Group AF
0.00000801 (AFR)
Exomes Max Group AF
0.0003143 (AMR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128530654C>T , CM000667.2:g.128530654C>T | GRCh38 |
| NC_000005.9:g.127866347C>T , CM000667.1:g.127866347C>T | GRCh37 |
| NC_000005.8:g.127894246C>T | NCBI36 |
| NG_008750.1:g.12389G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000508053.6:c.377G>A | ENSP00000424571.2:p.Arg126His | |
| ENST00000703787.1:n.84G>A | ||
| ENST00000262464.9:c.377G>A MANE Select | ENSP00000262464.4:p.Arg126His | |
| ENST00000262464.8:c.377G>A | ENSP00000262464.4:p.Arg126His | |
| ENST00000502468.5:c.377G>A | ENSP00000424753.1:p.Arg126His | |
| ENST00000508053.5:c.377G>A | ENSP00000424571.1:p.Arg126His | |
| ENST00000508989.5:c.338-2687G>A | ENSP00000425596.1:n.338-2687G>A | |
| ENST00000514742.1:n.997G>A | ||
| ENST00000619499.4:c.377G>A | ENSP00000482132.1:p.Arg126His | |
| ENST00000620257.1:c.377G>A | ENSP00000479157.1:p.Arg126His | |
| NM_001999.3:c.377G>A | NP_001990.2:p.Arg126His | |
| XM_017009228.2:c.377G>A | XP_016864717.1:p.Arg126His | |
| NM_001999.4:c.377G>A MANE Select | NP_001990.2:p.Arg126His |