ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00033236 (NFE)
Genomes Max Group AF
0.00018199 (NFE)
Exomes Max Group AF
0.00033648 (NFE)
Revel Score:
ENST00000367755 (MANE Select)
0.583
ENST00000392085
0.583
ENST00000542847
0.583
ENST00000538429
0.583
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171117317C>T , CM000663.2:g.171117317C>T | GRCh38 |
| NC_000001.10:g.171086457C>T , CM000663.1:g.171086457C>T | GRCh37 |
| NC_000001.9:g.169353081C>T | NCBI36 |
| NG_012690.1:g.31440C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367755.9:c.1474C>T MANE Select | ENSP00000356729.4:p.Arg492Trp | |
| ENST00000367755.8:c.1474C>T | ENSP00000356729.4:p.Arg492Trp | |
| NM_001002294.2:c.1474C>T | NP_001002294.1:p.Arg492Trp | |
| NM_006894.5:c.1474C>T | NP_008825.4:p.Arg492Trp | |
| XM_005245044.1:c.1285C>T | XP_005245101.1:p.Arg429Trp | |
| XM_011509345.1:c.1414C>T | XP_011507647.1:p.Arg472Trp | |
| XM_011509346.1:c.1414C>T | XP_011507648.1:p.Arg472Trp | |
| NM_001319173.1:c.1414C>T | NP_001306102.1:p.Arg472Trp | |
| NM_001319174.1:c.1285C>T | NP_001306103.1:p.Arg429Trp | |
| XM_011509345.3:c.1414C>T | XP_011507647.1:p.Arg472Trp | |
| XM_024454365.1:c.727C>T | XP_024310133.1:p.Arg243Trp | |
| NM_001002294.3:c.1474C>T MANE Select | NP_001002294.1:p.Arg492Trp | |
| NM_001319173.2:c.1414C>T | NP_001306102.1:p.Arg472Trp | |
| NM_001319174.2:c.1285C>T | NP_001306103.1:p.Arg429Trp | |
| NM_006894.6:c.1474C>T | NP_008825.4:p.Arg492Trp |