COSMIC:
COSM5019783 (not active)
Revel Score:
ENST00000355832 (MANE Select)
0.556
ENST00000374129
0.556
ENST00000542458
0.556
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00141664 (AMR)
Genomes Max Group AF
0.0020881 (AMR)
Exomes Max Group AF
0.00104998 (AMR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49470310A>C , CM000672.2:g.49470310A>C | GRCh38 |
| NC_000010.10:g.50678356A>C , CM000672.1:g.50678356A>C | GRCh37 |
| NC_000010.9:g.50348362A>C | NCBI36 |
| NG_009442.1:g.73792T>G , LRG_465:g.73792T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.3650T>G MANE Select | ENSP00000348089.5:p.Phe1217Cys | |
| ENST00000679552.1:n.721T>G | ||
| ENST00000679871.1:n.796T>G | ||
| ENST00000679974.1:n.699T>G | ||
| ENST00000681632.1:n.5053T>G | ||
| ENST00000681659.1:c.3491T>G | ENSP00000505631.1:p.Phe1164Cys | |
| ENST00000355832.9:c.3650T>G | ENSP00000348089.5:p.Phe1217Cys | |
| ENST00000623073.3:c.*1946T>G | ENSP00000485650.1:n.*1946T>G | |
| ENST00000623115.3:c.1760T>G | ENSP00000485321.1:p.Phe587Cys | |
| ENST00000624341.3:c.1482T>G | ||
| NM_000124.3:c.3650T>G | NP_000115.1:p.Phe1217Cys | |
| XR_945953.1:n.243-1255A>C | ||
| NM_001346440.1:c.3650T>G | NP_001333369.1:p.Phe1217Cys | |
| NM_000124.4:c.3650T>G MANE Select | NP_000115.1:p.Phe1217Cys | |
| NM_001346440.2:c.3650T>G | NP_001333369.1:p.Phe1217Cys |