COSMIC:
COSM3754270 (not active)
COSM3754271 (not active)
COSM3754272 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.33696434 (SAS)
Genomes Max Group AF
0.33293824 (SAS)
Exomes Max Group AF
0.33650803 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34258881G>A , CM000677.2:g.34258881G>A | GRCh38 |
| NC_000015.9:g.34551082G>A , CM000677.1:g.34551082G>A | GRCh37 |
| NC_000015.8:g.32338374G>A | NCBI36 |
| NG_007951.1:g.84184C>T , LRG_270:g.84184C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354181.8:c.475C>T MANE Select | ENSP00000346112.3:p.Leu159= | |
| ENST00000675289.1:n.1257C>T | ||
| ENST00000676379.1:c.475C>T | ENSP00000502539.1:p.Leu159= | |
| ENST00000290209.9:c.322C>T | ENSP00000290209.5:p.Leu108= | |
| ENST00000354181.7:c.475C>T | ENSP00000346112.3:p.Leu159= | |
| ENST00000397702.6:c.298C>T | ENSP00000380814.2:p.Leu100= | |
| ENST00000397707.6:c.430C>T | ENSP00000380819.2:p.Leu144= | |
| ENST00000458406.6:c.298C>T | ENSP00000387725.2:p.Leu100= | |
| ENST00000558589.5:c.448C>T | ENSP00000452776.1:p.Leu150= | |
| ENST00000558667.5:c.475C>T | ENSP00000453473.1:p.Leu159= | |
| ENST00000559523.5:c.298C>T | ENSP00000452904.1:p.Leu100= | |
| ENST00000559664.5:c.475C>T | ENSP00000453702.1:p.Leu159= | |
| ENST00000560164.5:c.58C>T | ENSP00000452705.1:p.Leu20= | |
| ENST00000560332.1:c.58C>T | ENSP00000454037.1:p.Leu20= | |
| ENST00000560611.5:c.475C>T | ENSP00000454168.1:p.Leu159= | |
| ENST00000561080.5:c.475C>T | ENSP00000454069.1:p.Leu159= | |
| ENST00000561120.5:c.448C>T | ENSP00000452771.1:p.Leu150= | |
| NM_001042494.1:c.298C>T | NP_001035959.1:p.Leu100= | |
| NM_001042495.1:c.298C>T | NP_001035960.1:p.Leu100= | |
| NM_001042496.1:c.448C>T | NP_001035961.1:p.Leu150= | |
| NM_001042497.1:c.430C>T | NP_001035962.1:p.Leu144= | |
| NM_005135.2:c.322C>T , LRG_270t1:c.322C>T | NP_005126.1:p.Leu108= | |
| NM_133647.1:c.475C>T , LRG_270t2:c.475C>T | NP_598408.1:p.Leu159= | |
| XM_006720793.2:c.475C>T | XP_006720856.1:p.Leu159= | |
| XM_011522267.1:c.475C>T | XP_011520569.1:p.Leu159= | |
| XM_011522268.1:c.475C>T | XP_011520570.1:p.Leu159= | |
| XM_011522269.1:c.475C>T | XP_011520571.1:p.Leu159= | |
| XR_429476.2:n.481C>T | ||
| XR_931960.1:n.481C>T | ||
| XR_931961.1:n.481C>T | ||
| NM_001365088.1:c.475C>T MANE Select | NP_001352017.1:p.Leu159= | |
| XM_006720793.4:c.475C>T | XP_006720856.1:p.Leu159= | |
| XM_011522269.3:c.475C>T | XP_011520571.1:p.Leu159= | |
| XR_931960.3:n.1725C>T | ||
| NM_001042494.2:c.298C>T | NP_001035959.1:p.Leu100= | |
| NM_001042495.2:c.298C>T | NP_001035960.1:p.Leu100= | |
| NM_001042496.2:c.448C>T | NP_001035961.1:p.Leu150= | |
| NM_001042497.2:c.430C>T | NP_001035962.1:p.Leu144= | |
| NM_133647.2:c.475C>T | NP_598408.1:p.Leu159= |