COSMIC:
COSM1746440 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.60579857 (AFR)
Genomes Max Group AF
0.59923263 (AFR)
Exomes Max Group AF
0.60962654 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64600390T>C , CM000673.2:g.64600390T>C | GRCh38 |
| NC_000011.9:g.64367862T>C , CM000673.1:g.64367862T>C | GRCh37 |
| NC_000011.8:g.64124438T>C | NCBI36 |
| NG_008110.1:g.14581T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377574.6:c.1309T>C MANE Select | ENSP00000366797.1:p.Leu437= | |
| ENST00000336464.7:c.1207T>C | ENSP00000336836.7:p.Leu403= | |
| ENST00000377567.6:c.985T>C | ENSP00000366790.2:p.Leu329= | |
| ENST00000377572.5:c.985T>C | ENSP00000366795.1:p.Leu329= | |
| ENST00000377574.5:c.1309T>C | ENSP00000366797.1:p.Leu437= | |
| ENST00000473690.5:c.646T>C | ENSP00000438437.1:p.Leu216= | |
| NM_001276326.1:c.1207T>C | NP_001263255.1:p.Leu403= | |
| NM_001276327.1:c.985T>C | NP_001263256.1:p.Leu329= | |
| NM_144585.3:c.1309T>C | NP_653186.2:p.Leu437= | |
| NM_153378.2:c.646T>C | NP_700357.1:p.Leu216= | |
| XM_006718430.2:c.1384T>C | XP_006718493.1:p.Leu462= | |
| XM_006718431.2:c.1279T>C | XP_006718494.1:p.Leu427= | |
| XM_006718430.4:c.1384T>C | XP_006718493.1:p.Leu462= | |
| XM_006718431.4:c.1279T>C | XP_006718494.1:p.Leu427= | |
| NM_144585.4:c.1309T>C MANE Select | NP_653186.2:p.Leu437= | |
| NM_001276326.2:c.1207T>C | NP_001263255.1:p.Leu403= | |
| NM_153378.3:c.646T>C | NP_700357.1:p.Leu216= | |
| NM_001276327.2:c.985T>C | NP_001263256.1:p.Leu329= |