Revel Score:
ENST00000357578 (MANE Select)
0.644
ENST00000546278
0.644
ENST00000491546
0.644
ENST00000348925
0.644
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0008864 (AMR)
Genomes Max Group AF
0.00081253 (AMR)
Exomes Max Group AF
0.00081122 (AMR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24528034C>G , CM000668.2:g.24528034C>G | GRCh38 |
| NC_000006.11:g.24528262C>G , CM000668.1:g.24528262C>G | GRCh37 |
| NC_000006.10:g.24636241C>G | NCBI36 |
| NG_008161.1:g.38066C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357578.8:c.1211C>G MANE Select | ENSP00000350191.3:p.Ala404Gly | |
| ENST00000479394.2:n.326C>G | ||
| ENST00000672352.1:c.830C>G | ENSP00000500876.1:p.Ala277Gly | |
| ENST00000672652.1:c.1174C>G | ||
| ENST00000348925.2:c.1250C>G | ENSP00000314649.3:p.Ala417Gly | |
| ENST00000357578.7:c.1211C>G | ENSP00000350191.3:p.Ala404Gly | |
| ENST00000479394.1:n.326C>G | ||
| ENST00000491546.5:c.1127C>G | ENSP00000417687.1:p.Ala376Gly | |
| NM_001080.3:c.1211C>G MANE Select | NP_001071.1:p.Ala404Gly | |
| NM_170740.1:c.1250C>G | NP_733936.1:p.Ala417Gly | |
| NM_001368954.1:c.1067C>G | NP_001355883.1:p.Ala356Gly |