COSMIC:
COSM3761955
COSM4161032
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.53504805 (EAS)
Genomes Max Group AF
0.53126789 (EAS)
Exomes Max Group AF
0.53372681 (EAS)
Revel Score:
ENST00000427449
0.024
ENST00000437316 (MANE Select)
0.047
ENST00000435145
0.047
ENST00000411527
0.047
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32759026C>T , CM000668.2:g.32759026C>T | GRCh38 |
| NC_000006.11:g.32726803C>T , CM000668.1:g.32726803C>T | GRCh37 |
| NC_000006.10:g.32834781C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437316.7:c.470G>A MANE Select | ENSP00000396330.2:p.Arg157Gln | |
| ENST00000411527.5:c.470G>A | ENSP00000390431.1:p.Arg157Gln | |
| ENST00000427449.1:c.466G>A | ||
| ENST00000435145.6:c.470G>A | ENSP00000410512.2:p.Arg157Gln | |
| ENST00000437316.6:c.470G>A | ENSP00000396330.2:p.Arg157Gln | |
| NM_001198858.1:c.470G>A | NP_001185787.1:p.Arg157Gln | |
| NM_001300790.1:c.470G>A | NP_001287719.1:p.Arg157Gln | |
| XM_005249051.3:c.470G>A | XP_005249108.1:p.Arg157Gln | |
| XM_011514560.1:c.470G>A | XP_011512862.1:p.Arg157Gln | |
| XM_011514561.1:c.470G>A | XP_011512863.1:p.Arg157Gln | |
| XM_005249051.4:c.470G>A | XP_005249108.1:p.Arg157Gln | |
| XM_011514560.2:c.470G>A | XP_011512862.1:p.Arg157Gln | |
| XM_011514561.3:c.470G>A | XP_011512863.1:p.Arg157Gln | |
| NM_001300790.2:c.470G>A MANE Select | NP_001287719.1:p.Arg157Gln | |
| NM_001198858.2:c.470G>A | NP_001185787.1:p.Arg157Gln |