Revel Score:
ENST00000404929 (MANE Select)
0.131
ENST00000405894
0.131
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00566022 (NFE)
Genomes Max Group AF
0.0048696 (NFE)
Exomes Max Group AF
0.00568471 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.61839851G>C , CM000664.2:g.61839851G>C | GRCh38 |
| NC_000002.11:g.62066986G>C , CM000664.1:g.62066986G>C | GRCh37 |
| NC_000002.10:g.61920490G>C | NCBI36 |
| NG_028125.1:g.19293C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404929.6:c.1153C>G MANE Select | ENSP00000385158.1:p.Gln385Glu | |
| ENST00000307507.3:c.*1163C>G | ENSP00000303170.3:n.*1163C>G | |
| ENST00000404929.5:c.1153C>G | ENSP00000385158.1:p.Gln385Glu | |
| ENST00000405894.3:c.1153C>G | ENSP00000385893.3:p.Gln385Glu | |
| ENST00000418113.5:c.1140C>G | ||
| ENST00000456262.5:c.*668C>G | ENSP00000396105.1:n.*668C>G | |
| NM_001201543.1:c.1153C>G | NP_001188472.1:p.Gln385Glu | |
| NM_032180.2:c.1153C>G | NP_115556.2:p.Gln385Glu | |
| NR_037710.1:n.1199C>G | ||
| XR_939724.1:n.2514C>G | ||
| XM_017005072.1:c.826C>G | XP_016860561.1:p.Gln276Glu | |
| XM_017005073.1:c.583C>G | XP_016860562.1:p.Gln195Glu | |
| XM_017005074.1:c.583C>G | XP_016860563.1:p.Gln195Glu | |
| XR_001738972.2:n.1154C>G | ||
| XR_001738973.2:n.1154C>G | ||
| XR_001738974.2:n.1154C>G | ||
| XR_001738975.2:n.1154C>G | ||
| XR_001738976.1:n.1182C>G | ||
| XR_001738977.1:n.1182C>G | ||
| NM_001201543.2:c.1153C>G MANE Select | NP_001188472.1:p.Gln385Glu | |
| NM_032180.3:c.1153C>G | NP_115556.2:p.Gln385Glu | |
| NR_037710.2:n.1116C>G |