COSMIC:
COSM149986 (not active)
COSM3761028 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.34748083 (AFR)
Genomes Max Group AF
0.34075598 (AFR)
Exomes Max Group AF
0.35253648 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149820480T>C , CM000667.2:g.149820480T>C | GRCh38 |
| NC_000005.9:g.149200043T>C , CM000667.1:g.149200043T>C | GRCh37 |
| NC_000005.8:g.149180236T>C | NCBI36 |
| NG_016747.1:g.95229T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309241.10:c.126T>C MANE Select | ENSP00000312649.5:p.Leu42= | |
| ENST00000309241.9:c.126T>C | ENSP00000312649.5:p.Leu42= | |
| ENST00000360453.8:c.126T>C | ENSP00000353638.4:p.Leu42= | |
| ENST00000394320.7:c.126T>C | ENSP00000377855.3:p.Leu42= | |
| ENST00000403750.5:c.51T>C | ENSP00000384403.1:p.Leu17= | |
| NM_001172698.1:c.126T>C | NP_001166169.1:p.Leu42= | |
| NM_001172699.1:c.51T>C | NP_001166170.1:p.Leu17= | |
| NM_133263.3:c.126T>C | NP_573570.3:p.Leu42= | |
| XM_005268372.3:c.63T>C | XP_005268429.1:p.Leu21= | |
| XM_011537553.1:c.126T>C | XP_011535855.1:p.Leu42= | |
| XM_011537554.1:c.63T>C | XP_011535856.1:p.Leu21= | |
| XM_011537555.1:c.126T>C | XP_011535857.1:p.Leu42= | |
| XM_011537556.1:c.-370T>C | XP_011535858.1:n.-370T>C | |
| XM_011537557.1:c.126T>C | XP_011535859.1:p.Leu42= | |
| XM_005268372.4:c.63T>C | XP_005268429.1:p.Leu21= | |
| XM_011537553.2:c.126T>C | XP_011535855.1:p.Leu42= | |
| XM_011537554.2:c.63T>C | XP_011535856.1:p.Leu21= | |
| XM_011537555.2:c.126T>C | XP_011535857.1:p.Leu42= | |
| XM_011537556.2:c.-370T>C | XP_011535858.1:n.-370T>C | |
| NM_133263.4:c.126T>C MANE Select | NP_573570.3:p.Leu42= | |
| NM_001172698.2:c.126T>C | NP_001166169.1:p.Leu42= | |
| NM_001172699.2:c.51T>C | NP_001166170.1:p.Leu17= |