COSMIC:
COSM3751837 (not active)
Revel Score:
ENST00000355832 (MANE Select)
0.144
ENST00000374129
0.144
ENST00000542458
0.144
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.34254073 (SAS)
Genomes Max Group AF
0.33333733 (SAS)
Exomes Max Group AF
0.34237188 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49470671T>C , CM000672.2:g.49470671T>C | GRCh38 |
| NC_000010.10:g.50678717T>C , CM000672.1:g.50678717T>C | GRCh37 |
| NC_000010.9:g.50348723T>C | NCBI36 |
| NG_009442.1:g.73431A>G , LRG_465:g.73431A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.3289A>G MANE Select | ENSP00000348089.5:p.Met1097Val | |
| ENST00000679552.1:n.360A>G | ||
| ENST00000679871.1:n.435A>G | ||
| ENST00000679974.1:n.338A>G | ||
| ENST00000681632.1:n.4692A>G | ||
| ENST00000681659.1:c.3130A>G | ENSP00000505631.1:p.Met1044Val | |
| ENST00000355832.9:c.3289A>G | ENSP00000348089.5:p.Met1097Val | |
| ENST00000623073.3:c.*1585A>G | ENSP00000485650.1:n.*1585A>G | |
| ENST00000623115.3:c.1399A>G | ENSP00000485321.1:p.Met467Val | |
| ENST00000624341.3:c.1121A>G | ||
| NM_000124.3:c.3289A>G | NP_000115.1:p.Met1097Val | |
| XR_945953.1:n.243-894T>C | ||
| NM_001346440.1:c.3289A>G | NP_001333369.1:p.Met1097Val | |
| NM_000124.4:c.3289A>G MANE Select | NP_000115.1:p.Met1097Val | |
| NM_001346440.2:c.3289A>G | NP_001333369.1:p.Met1097Val |