COSMIC:
COSM146406 (not active)
Revel Score:
ENST00000376259 (MANE Select)
0.044
ENST00000400863
0.044
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.25594685 (SAS)
Genomes Max Group AF
0.24333889 (SAS)
Exomes Max Group AF
0.25606816 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.12192898T>G , CM000663.2:g.12192898T>G | GRCh38 |
| NC_000001.10:g.12252955T>G , CM000663.1:g.12252955T>G | GRCh37 |
| NC_000001.9:g.12175542T>G | NCBI36 |
| NG_029791.1:g.30896T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376259.7:c.587T>G MANE Select | ENSP00000365435.3:p.Met196Arg | |
| ENST00000376259.6:c.587T>G | ENSP00000365435.3:p.Met196Arg | |
| ENST00000489921.1:n.299T>G | ||
| ENST00000492361.1:n.576T>G | ||
| NM_001066.2:c.587T>G | NP_001057.1:p.Met196Arg | |
| XM_011542060.1:c.587T>G | XP_011540362.1:p.Met196Arg | |
| XM_011542061.1:c.587T>G | XP_011540363.1:p.Met196Arg | |
| XM_011542062.1:c.566T>G | XP_011540364.1:p.Met189Arg | |
| XM_011542063.1:c.587T>G | XP_011540365.1:p.Met196Arg | |
| XM_011542060.2:c.587T>G | XP_011540362.1:p.Met196Arg | |
| XM_011542063.2:c.587T>G | XP_011540365.1:p.Met196Arg | |
| XM_017002211.1:c.587T>G | XP_016857700.1:p.Met196Arg | |
| XM_017002214.1:c.2T>G | XP_016857703.1:p.Met1Arg | |
| XM_017002215.1:c.2T>G | XP_016857704.1:p.Met1Arg | |
| NM_001066.3:c.587T>G MANE Select | NP_001057.1:p.Met196Arg |