Revel Score:
ENST00000373960 (MANE Select)
0.692
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003954 (NFE)
Exomes Max Group AF
0.0000411 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219425727C>G , CM000664.2:g.219425727C>G | GRCh38 |
| NC_000002.11:g.220290449C>G , CM000664.1:g.220290449C>G | GRCh37 |
| NC_000002.10:g.219998693C>G | NCBI36 |
| NG_008043.1:g.12351C>G , LRG_380:g.12351C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477226.6:n.827C>G | ||
| ENST00000683013.1:n.741C>G | ||
| ENST00000373960.4:c.1353C>G MANE Select | ENSP00000363071.3:p.Ile451Met | |
| ENST00000373960.3:c.1353C>G | ENSP00000363071.3:p.Ile451Met | |
| ENST00000483395.1:n.208C>G | ||
| NM_001927.3:c.1353C>G , LRG_380t1:c.1353C>G | NP_001918.3:p.Ile451Met | |
| NM_001927.4:c.1353C>G MANE Select | NP_001918.3:p.Ile451Met | |
| NM_001382708.1:c.1350C>G | NP_001369637.1:p.Ile450Met | |
| NM_001382709.1:c.921C>G | NP_001369638.1:p.Ile307Met | |
| NM_001382710.1:c.1284C>G | NP_001369639.1:p.Ile428Met | |
| NM_001382711.1:c.1332C>G | NP_001369640.1:p.Ile444Met | |
| NM_001382712.1:c.1353C>G | NP_001369641.1:p.Ile451Met | |
| NM_001382713.1:c.1083C>G | NP_001369642.1:p.Ile361Met |