Revel Score:
ENST00000503569
0.913
ENST00000226760 (MANE Select)
0.913
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00020982 (AFR)
Genomes Max Group AF
0.00012875 (AMR)
Exomes Max Group AF
0.00025238 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6300990T>G , CM000666.2:g.6300990T>G | GRCh38 |
| NC_000004.11:g.6302717T>G , CM000666.1:g.6302717T>G | GRCh37 |
| NC_000004.10:g.6353618T>G | NCBI36 |
| NG_011700.1:g.36141T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1231T>G | ENSP00000507852.1:p.Trp411Gly | |
| ENST00000683395.1:c.1172T>G | ||
| ENST00000684087.1:c.1195T>G | ENSP00000506978.1:p.Trp399Gly | |
| ENST00000506362.2:c.946T>G | ENSP00000424103.2:p.Trp316Gly | |
| ENST00000673642.1:c.854T>G | ENSP00000501242.1:p.Leu285Arg | |
| ENST00000673991.1:c.1231T>G | ENSP00000501033.1:p.Trp411Gly | |
| ENST00000226760.5:c.1195T>G MANE Select | ENSP00000226760.1:p.Trp399Gly | |
| ENST00000503569.5:c.1195T>G | ENSP00000423337.1:p.Trp399Gly | |
| ENST00000507765.1:n.1380T>G | ||
| NM_001145853.1:c.1195T>G | NP_001139325.1:p.Trp399Gly | |
| NM_006005.3:c.1195T>G MANE Select | NP_005996.2:p.Trp399Gly | |
| XM_017008586.1:c.1204T>G | XP_016864075.1:p.Trp402Gly |