COSMIC:
COSM4576928 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00027593 (AMR)
Genomes Max Group AF
0.00016984 (AMR)
Exomes Max Group AF
0.00026002 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21864894G>A , CM000663.2:g.21864894G>A | GRCh38 |
| NC_000001.10:g.22191387G>A , CM000663.1:g.22191387G>A | GRCh37 |
| NC_000001.9:g.22063974G>A | NCBI36 |
| NG_016740.1:g.77364C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.4575C>T MANE Select | ENSP00000363827.3:p.Leu1525= | |
| ENST00000374695.7:c.4575C>T | ENSP00000363827.3:p.Leu1525= | |
| NM_001291860.1:c.4578C>T | NP_001278789.1:p.Leu1526= | |
| NM_005529.6:c.4575C>T | NP_005520.4:p.Leu1525= | |
| XM_006710594.2:c.5121C>T | XP_006710657.1:p.Leu1707= | |
| XM_006710595.2:c.5073C>T | XP_006710658.1:p.Leu1691= | |
| XM_006710596.2:c.5052C>T | XP_006710659.1:p.Leu1684= | |
| XM_006710597.2:c.4575C>T | XP_006710660.1:p.Leu1525= | |
| XM_011541317.1:c.5124C>T | XP_011539619.1:p.Leu1708= | |
| XM_011541318.1:c.5124C>T | XP_011539620.1:p.Leu1708= | |
| XM_011541319.1:c.5124C>T | XP_011539621.1:p.Leu1708= | |
| XM_011541320.1:c.5124C>T | XP_011539622.1:p.Leu1708= | |
| XM_011541321.1:c.4629C>T | XP_011539623.1:p.Leu1543= | |
| XM_011541322.1:c.5124C>T | XP_011539624.1:p.Leu1708= | |
| XM_011541318.2:c.5124C>T | XP_011539620.1:p.Leu1708= | |
| XM_017001120.1:c.4770C>T | XP_016856609.1:p.Leu1590= | |
| XM_017001121.1:c.4719C>T | XP_016856610.1:p.Leu1573= | |
| XM_017001122.1:c.4716C>T | XP_016856611.1:p.Leu1572= | |
| NM_005529.7:c.4575C>T MANE Select | NP_005520.4:p.Leu1525= | |
| NM_001291860.2:c.4578C>T | NP_001278789.1:p.Leu1526= |