ClinVar RCV:
ClinVar Variation:
dbSNP:
Revel Score:
ENST00000218099 (MANE Select)
0.932
ENST00000394090
0.932
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139561865A>G , CM000685.2:g.139561865A>G | GRCh38 |
| NC_000023.10:g.138644024A>G , CM000685.1:g.138644024A>G | GRCh37 |
| NC_000023.9:g.138471690A>G | NCBI36 |
| NG_007994.1:g.36130A>G , LRG_556:g.36130A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218099.7:c.1180A>G MANE Select | ENSP00000218099.2:p.Met394Val | |
| ENST00000643157.1:n.1723+124A>G | ||
| ENST00000218099.6:c.1180A>G | ENSP00000218099.2:p.Met394Val | |
| ENST00000394090.2:c.1066A>G | ENSP00000377650.2:p.Met356Val | |
| NM_000133.3:c.1180A>G , LRG_556t1:c.1180A>G | NP_000124.1:p.Met394Val | |
| NM_001313913.1:c.1066A>G | NP_001300842.1:p.Met356Val | |
| XM_005262397.3:c.1051A>G | XP_005262454.1:p.Met351Val | |
| XM_005262397.4:c.1051A>G | XP_005262454.1:p.Met351Val | |
| NM_000133.4:c.1180A>G MANE Select | NP_000124.1:p.Met394Val | |
| NM_001313913.2:c.1066A>G | NP_001300842.1:p.Met356Val |