Revel Score:
ENST00000503581 (MANE Select)
0.589
ENST00000370621
0.589
ENST00000370616
0.589
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00036647 (EAS)
Genomes Max Group AF
0.00006837 (EAS)
Exomes Max Group AF
0.00037432 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.64081870C>T , CM000668.2:g.64081870C>T | GRCh38 |
| NC_000006.11:g.64791763C>T , CM000668.1:g.64791763C>T | GRCh37 |
| NC_000006.10:g.64849722C>T | NCBI36 |
| NG_023443.1:g.1630356G>A | |
| NG_023443.2:g.1630356G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503581.6:c.6557G>A MANE Select | ENSP00000424243.1:p.Gly2186Glu | |
| ENST00000370616.6:c.6557G>A | ENSP00000359650.2:p.Gly2186Glu | |
| ENST00000370618.7:c.6557G>A | ENSP00000359652.4:p.Gly2186Glu | |
| ENST00000370621.7:c.6557G>A | ENSP00000359655.3:p.Gly2186Glu | |
| ENST00000503581.5:c.6557G>A | ENSP00000424243.1:p.Gly2186Glu | |
| NM_001142800.1:c.6557G>A | NP_001136272.1:p.Gly2186Glu | |
| NM_001292009.1:c.6557G>A | NP_001278938.1:p.Gly2186Glu | |
| NM_001142800.2:c.6557G>A MANE Select | NP_001136272.1:p.Gly2186Glu | |
| NM_001292009.2:c.6557G>A | NP_001278938.1:p.Gly2186Glu |