ClinVar Variation:
COSMIC:
COSM5050073
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00052528 (SAS)
Genomes Max Group AF
0.00009547 (AFR)
Exomes Max Group AF
0.00053355 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.16906318G>A , CM000672.2:g.16906318G>A | GRCh38 |
| NC_000010.10:g.16948317G>A , CM000672.1:g.16948317G>A | GRCh37 |
| NC_000010.9:g.16988323G>A | NCBI36 |
| NG_008967.1:g.228500C>T , LRG_540:g.228500C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377833.10:c.7797C>T MANE Select | ENSP00000367064.4:p.Cys2599= | |
| ENST00000648092.1:n.333C>T | ||
| ENST00000649933.1:n.159C>T | ||
| ENST00000377833.8:c.7797C>T | ENSP00000367064.4:p.Cys2599= | |
| NM_001081.3:c.7797C>T , LRG_540t1:c.7797C>T | NP_001072.2:p.Cys2599= | |
| XM_011519708.1:c.7797C>T | XP_011518010.1:p.Cys2599= | |
| XM_011519709.1:c.3783C>T | XP_011518011.1:p.Cys1261= | |
| XM_011519710.1:c.3759C>T | XP_011518012.1:p.Cys1253= | |
| XM_011519711.1:c.3639C>T | XP_011518013.1:p.Cys1213= | |
| XM_011519708.2:c.7797C>T | XP_011518010.1:p.Cys2599= | |
| XM_011519709.2:c.3783C>T | XP_011518011.1:p.Cys1261= | |
| XM_011519710.2:c.3759C>T | XP_011518012.1:p.Cys1253= | |
| XM_011519711.3:c.3639C>T | XP_011518013.1:p.Cys1213= | |
| NM_001081.4:c.7797C>T MANE Select | NP_001072.2:p.Cys2599= |