COSMIC:
COSM450035 (not active)
COSM450036 (not active)
Revel Score:
ENST00000296794
0.014
ENST00000545377
0.014
ENST00000513042 (MANE Select)
0.014
ENST00000287898
0.014
ENST00000437974
0.014
ENST00000426542
0.014
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.46391632 (NFE)
Genomes Max Group AF
0.45150547 (NFE)
Exomes Max Group AF
0.46444752 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.73776529T>C , CM000667.2:g.73776529T>C | GRCh38 |
| NC_000005.9:g.73072354T>C , CM000667.1:g.73072354T>C | GRCh37 |
| NC_000005.8:g.73108110T>C | NCBI36 |
| NG_017198.1:g.155372T>C | |
| NG_017198.2:g.155372T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000513042.7:c.673T>C MANE Select | ENSP00000441436.1:p.Trp225Arg | |
| ENST00000296794.10:c.673T>C | ENSP00000296794.6:p.Trp225Arg | |
| ENST00000426542.6:c.673T>C | ENSP00000412175.2:p.Trp225Arg | |
| ENST00000437974.5:c.673T>C | ENSP00000411459.1:p.Trp225Arg | |
| ENST00000513042.6:c.673T>C | ENSP00000441436.1:p.Trp225Arg | |
| ENST00000545377.5:c.673T>C | ENSP00000441913.1:p.Trp225Arg | |
| NM_001080479.2:c.673T>C | NP_001073948.2:p.Trp225Arg | |
| NM_001177693.1:c.673T>C | NP_001171164.1:p.Trp225Arg | |
| XM_011543545.1:c.733T>C | XP_011541847.1:p.Trp245Arg | |
| XM_011543546.1:c.673T>C | XP_011541848.1:p.Trp225Arg | |
| XM_011543547.1:c.667T>C | XP_011541849.1:p.Trp223Arg | |
| XM_011543548.1:c.733T>C | XP_011541850.1:p.Trp245Arg | |
| XM_011543549.1:c.643T>C | XP_011541851.1:p.Trp215Arg | |
| XM_011543550.1:c.634T>C | XP_011541852.1:p.Trp212Arg | |
| XM_011543546.2:c.673T>C | XP_011541848.1:p.Trp225Arg | |
| XM_011543547.2:c.667T>C | XP_011541849.1:p.Trp223Arg | |
| XM_017009702.1:c.379T>C | XP_016865191.1:p.Trp127Arg | |
| NM_001080479.3:c.673T>C | NP_001073948.2:p.Trp225Arg | |
| NM_001177693.2:c.673T>C MANE Select | NP_001171164.1:p.Trp225Arg | |
| NM_001388076.1:c.379T>C | NP_001375005.1:p.Trp127Arg | |
| NM_001388078.1:c.673T>C | NP_001375007.1:p.Trp225Arg |