COSMIC:
COSM3999269 (not active)
Revel Score:
ENST00000396128 (MANE Select)
0.785
ENST00000355081
0.785
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01569027 (NFE)
Genomes Max Group AF
0.0135151 (NFE)
Exomes Max Group AF
0.01578269 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.44934496C>A , CM000676.2:g.44934496C>A | GRCh38 |
| NC_000014.8:g.45403699C>A , CM000676.1:g.45403699C>A | GRCh37 |
| NC_000014.7:g.44473449C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396128.9:c.962G>T MANE Select | ENSP00000379434.4:p.Arg321Leu | |
| ENST00000355081.3:c.1004G>T | ENSP00000347193.2:p.Arg335Leu | |
| ENST00000396128.8:c.962G>T | ENSP00000379434.3:p.Arg321Leu | |
| NM_001308112.1:c.1004G>T | NP_001295041.1:p.Arg335Leu | |
| NM_017658.3:c.962G>T | NP_060128.2:p.Arg321Leu | |
| NM_017658.4:c.962G>T | NP_060128.2:p.Arg321Leu | |
| XM_005267770.2:c.962G>T | XP_005267827.1:p.Arg321Leu | |
| XM_011536847.1:c.962G>T | XP_011535149.1:p.Arg321Leu | |
| XM_011536848.1:c.962G>T | XP_011535150.1:p.Arg321Leu | |
| XM_011536849.1:c.1004G>T | XP_011535151.1:p.Arg335Leu | |
| XM_005267770.4:c.962G>T | XP_005267827.1:p.Arg321Leu | |
| XM_011536847.3:c.962G>T | XP_011535149.1:p.Arg321Leu | |
| XM_011536849.2:c.1004G>T | XP_011535151.1:p.Arg335Leu | |
| XM_024449635.1:c.962G>T | XP_024305403.1:p.Arg321Leu | |
| NM_001308112.2:c.1004G>T | NP_001295041.1:p.Arg335Leu | |
| NM_017658.5:c.962G>T MANE Select | NP_060128.2:p.Arg321Leu |