COSMIC:
COSM4418405 (not active)
COSM4418406 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.87720749 (AFR)
Genomes Max Group AF
0.87553687 (AFR)
Exomes Max Group AF
0.87408522 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43118395G>T , CM000672.2:g.43118395G>T | GRCh38 |
| NC_000010.10:g.43613843G>T , CM000672.1:g.43613843G>T | GRCh37 |
| NC_000010.9:g.42933849G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.1911G>T | ENSP00000480088.2:p.Leu637= | |
| ENST00000683007.1:n.1881G>T | ||
| ENST00000683872.1:n.1872G>T | ||
| ENST00000340058.6:c.2307G>T | ENSP00000344798.4:p.Leu769= | |
| ENST00000355710.8:c.2307G>T MANE Select | ENSP00000347942.3:p.Leu769= | |
| ENST00000671844.1:c.*901G>T | ENSP00000500541.1:n.*901G>T | |
| ENST00000672389.1:c.*901G>T | ENSP00000500252.1:n.*901G>T | |
| ENST00000340058.5:c.2307G>T | ENSP00000344798.4:p.Leu769= | |
| ENST00000355710.7:c.2307G>T | ENSP00000347942.3:p.Leu769= | |
| ENST00000615310.4:c.1290-1307G>T | ENSP00000480088.1:n.1290-1307G>T | |
| XM_011540027.1:c.2307G>T | XP_011538329.1:p.Leu769= | |
| NM_001355216.1:c.1545G>T | NP_001342145.1:p.Leu515= | |
| NM_020630.5:c.2307G>T | NP_065681.1:p.Leu769= | |
| NM_020975.5:c.2307G>T | NP_066124.1:p.Leu769= | |
| NM_020975.6:c.2307G>T MANE Select | NP_066124.1:p.Leu769= | |
| NM_020630.6:c.2307G>T | NP_065681.1:p.Leu769= |