Revel Score:
ENST00000283871 (MANE Select)
0.948
ENST00000476082
0.948
gnomAD v2:
gnomAD v4:
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120670520C>A , CM000665.2:g.120670520C>A | GRCh38 |
| NC_000003.11:g.120389367C>A , CM000665.1:g.120389367C>A | GRCh37 |
| NC_000003.10:g.121872057C>A | NCBI36 |
| NG_011957.1:g.16962G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.189G>T MANE Select | ENSP00000283871.5:p.Arg63Ser | |
| ENST00000283871.9:c.189G>T | ENSP00000283871.5:p.Arg63Ser | |
| ENST00000466528.5:n.215G>T | ||
| ENST00000476082.2:c.66G>T | ENSP00000419560.2:p.Arg22Ser | |
| ENST00000485313.5:n.297G>T | ||
| ENST00000488183.5:n.447G>T | ||
| NM_000187.3:c.189G>T | NP_000178.2:p.Arg63Ser | |
| XM_005247412.1:c.189G>T | XP_005247469.1:p.Arg63Ser | |
| XM_005247413.1:c.189G>T | XP_005247470.1:p.Arg63Ser | |
| XM_005247414.3:c.189G>T | XP_005247471.1:p.Arg63Ser | |
| XM_011512746.1:c.189G>T | XP_011511048.1:p.Arg63Ser | |
| XM_005247412.2:c.189G>T | XP_005247469.1:p.Arg63Ser | |
| XM_005247413.2:c.189G>T | XP_005247470.1:p.Arg63Ser | |
| XM_005247414.5:c.189G>T | XP_005247471.1:p.Arg63Ser | |
| XM_011512746.2:c.189G>T | XP_011511048.1:p.Arg63Ser | |
| XM_017006277.2:c.-235G>T | XP_016861766.1:n.-235G>T | |
| NM_000187.4:c.189G>T MANE Select | NP_000178.2:p.Arg63Ser |