Revel Score:
ENST00000260197 (MANE Select)
0.336
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01376194 (AFR)
Genomes Max Group AF
0.01379165 (AFR)
Exomes Max Group AF
0.01307587 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121558767C>T , CM000673.2:g.121558767C>T | GRCh38 |
| NC_000011.9:g.121429476C>T , CM000673.1:g.121429476C>T | GRCh37 |
| NC_000011.8:g.120934686C>T | NCBI36 |
| NG_023313.1:g.111516C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260197.12:c.2840C>T MANE Select | ENSP00000260197.6:p.Thr947Met | |
| ENST00000260197.11:c.2840C>T | ENSP00000260197.6:p.Thr947Met | |
| ENST00000524873.1:n.568C>T | ||
| ENST00000529445.1:n.546C>T | ||
| NM_003105.5:c.2840C>T | NP_003096.1:p.Thr947Met | |
| XM_011542963.1:c.2840C>T | XP_011541265.1:p.Thr947Met | |
| XM_011542964.1:c.2840C>T | XP_011541266.1:p.Thr947Met | |
| XM_011542965.1:c.1301C>T | XP_011541267.1:p.Thr434Met | |
| XM_011542966.1:c.200C>T | XP_011541268.1:p.Thr67Met | |
| XM_011542963.3:c.2840C>T | XP_011541265.1:p.Thr947Met | |
| XM_011542965.3:c.1301C>T | XP_011541267.1:p.Thr434Met | |
| XM_017018169.2:c.2528C>T | XP_016873658.1:p.Thr843Met | |
| XM_017018170.2:c.2315C>T | XP_016873659.1:p.Thr772Met | |
| XM_017018171.1:c.2840C>T | XP_016873660.1:p.Thr947Met | |
| XM_017018172.2:c.200C>T | XP_016873661.1:p.Thr67Met | |
| NM_003105.6:c.2840C>T MANE Select | NP_003096.2:p.Thr947Met |