COSMIC:
COSM1414454 (not active)
Revel Score:
ENST00000397852
0.489
ENST00000397857
0.489
ENST00000397854
0.489
ENST00000355153
0.489
ENST00000397850
0.489
ENST00000302347
0.489
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00804349 (NFE)
Genomes Max Group AF
0.00625428 (NFE)
Exomes Max Group AF
0.00812551 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44889397G>A , CM000683.2:g.44889397G>A | GRCh38 |
| NC_000021.8:g.46309312G>A , CM000683.1:g.46309312G>A | GRCh37 |
| NC_000021.7:g.45133740G>A | NCBI36 |
| NG_007270.2:g.44442C>T , LRG_76:g.44442C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696946.1:n.963C>T | ||
| ENST00000302347.10:c.1828C>T | ENSP00000303242.6:p.Arg610Trp | |
| ENST00000652462.1:c.1756C>T MANE Select | ENSP00000498780.1:p.Arg586Trp | |
| ENST00000302347.9:c.1756C>T | ENSP00000303242.5:p.Arg586Trp | |
| ENST00000355153.8:c.1756C>T | ENSP00000347279.4:p.Arg586Trp | |
| ENST00000397850.6:c.1756C>T | ENSP00000380948.2:p.Arg586Trp | |
| ENST00000397852.5:c.1756C>T | ENSP00000380950.1:p.Arg586Trp | |
| ENST00000397854.7:c.1585C>T | ENSP00000380952.3:p.Arg529Trp | |
| ENST00000397857.5:c.1756C>T | ENSP00000380955.1:p.Arg586Trp | |
| ENST00000475170.5:n.1156C>T | ||
| ENST00000498666.5:n.3812C>T | ||
| ENST00000523323.5:c.*1583C>T | ENSP00000427732.1:n.*1583C>T | |
| ENST00000610622.4:c.*447C>T | ENSP00000480700.1:n.*447C>T | |
| NM_000211.4:c.1756C>T | NP_000202.3:p.Arg586Trp | |
| NM_001127491.2:c.1756C>T | NP_001120963.2:p.Arg586Trp | |
| NM_001303238.1:c.1549C>T | NP_001290167.1:p.Arg517Trp | |
| XM_006724001.1:c.1549C>T | XP_006724064.1:p.Arg517Trp | |
| XM_006724001.2:c.1549C>T | XP_006724064.1:p.Arg517Trp | |
| NM_000211.5:c.1756C>T MANE Select | NP_000202.3:p.Arg586Trp | |
| NM_001127491.3:c.1756C>T | NP_001120963.2:p.Arg586Trp | |
| NM_001303238.2:c.1549C>T | NP_001290167.1:p.Arg517Trp |