Revel Score:
ENST00000311550 (MANE Select)
0.437
ENST00000541819
0.437
ENST00000299267
0.437
gnomAD v2:
gnomAD v4:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.26772759C>T , CM000677.2:g.26772759C>T | GRCh38 |
| NC_000015.9:g.27017906C>T , CM000677.1:g.27017906C>T | GRCh37 |
| NC_000015.8:g.24568999C>T | NCBI36 |
| NG_012836.1:g.6022G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299267.9:c.94G>A | ENSP00000299267.4:p.Gly32Arg | |
| ENST00000311550.10:c.94G>A MANE Select | ENSP00000308725.5:p.Gly32Arg | |
| ENST00000638099.1:c.-6G>A | ENSP00000490678.1:n.-6G>A | |
| ENST00000299267.8:c.94G>A | ENSP00000299267.4:p.Gly32Arg | |
| ENST00000311550.9:c.94G>A | ENSP00000308725.5:p.Gly32Arg | |
| ENST00000541819.6:c.262G>A | ENSP00000442408.2:p.Gly88Arg | |
| ENST00000554556.5:c.94G>A | ENSP00000451077.1:p.Gly32Arg | |
| ENST00000554722.1:n.121G>A | ||
| ENST00000555632.5:c.94G>A | ENSP00000452041.1:p.Gly32Arg | |
| ENST00000557641.5:n.466G>A | ||
| ENST00000622697.4:c.-258G>A | ENSP00000481004.1:n.-258G>A | |
| NM_000814.5:c.94G>A | NP_000805.1:p.Gly32Arg | |
| NM_001278631.1:c.-258G>A | NP_001265560.1:n.-258G>A | |
| NM_021912.4:c.94G>A | NP_068712.1:p.Gly32Arg | |
| NM_000814.6:c.94G>A MANE Select | NP_000805.1:p.Gly32Arg | |
| NM_021912.5:c.94G>A | NP_068712.1:p.Gly32Arg | |
| NM_001278631.2:c.-258G>A | NP_001265560.1:n.-258G>A |