Revel Score:
ENST00000395869
0.515
ENST00000292327 (MANE Select)
0.515
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46860702C>T , CM000665.2:g.46860702C>T | GRCh38 |
| NC_000003.11:g.46902192C>T , CM000665.1:g.46902192C>T | GRCh37 |
| NC_000003.10:g.46877196C>T | NCBI36 |
| NG_007555.2:g.26468G>A , LRG_395:g.26468G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000431168.2:c.281G>A | ENSP00000393455.2:p.Arg94His | |
| ENST00000292327.6:c.281G>A MANE Select | ENSP00000292327.4:p.Arg94His | |
| ENST00000653454.1:c.281G>A | ENSP00000499624.1:p.Arg94His | |
| ENST00000654597.1:c.281G>A | ENSP00000499406.1:p.Arg94His | |
| ENST00000655244.1:n.503G>A | ||
| ENST00000662933.1:c.281G>A | ENSP00000499577.1:p.Arg94His | |
| ENST00000664891.1:n.239G>A | ||
| ENST00000292327.4:c.281G>A | ENSP00000292327.4:p.Arg94His | |
| ENST00000395869.5:c.281G>A | ENSP00000379210.1:p.Arg94His | |
| NM_000258.2:c.281G>A , LRG_395t1:c.281G>A | NP_000249.1:p.Arg94His | |
| NM_000258.3:c.281G>A MANE Select | NP_000249.1:p.Arg94His |