COSMIC:
COSM3998056 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.30515809 (EAS)
Genomes Max Group AF
0.29028086 (EAS)
Exomes Max Group AF
0.30576117 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.67906841T>C , CM000672.2:g.67906841T>C | GRCh38 |
| NC_000010.10:g.69666598T>C , CM000672.1:g.69666598T>C | GRCh37 |
| NC_000010.9:g.69336604T>C | NCBI36 |
| NG_050664.1:g.27180T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000212015.11:c.994T>C MANE Select | ENSP00000212015.6:p.Leu332= | |
| ENST00000212015.10:c.994T>C | ENSP00000212015.6:p.Leu332= | |
| ENST00000403579.1:c.85T>C | ENSP00000384063.1:p.Leu29= | |
| ENST00000406900.5:c.85T>C | ENSP00000384508.1:p.Leu29= | |
| ENST00000432464.5:c.109T>C | ENSP00000409208.1:p.Leu37= | |
| ENST00000473922.1:n.538T>C | ||
| NM_001142498.1:c.109T>C | NP_001135970.1:p.Leu37= | |
| NM_001314049.1:c.85T>C | NP_001300978.1:p.Leu29= | |
| NM_012238.4:c.994T>C | NP_036370.2:p.Leu332= | |
| XM_006717737.2:c.841T>C | XP_006717800.1:p.Leu281= | |
| XM_011539561.1:c.418T>C | XP_011537863.1:p.Leu140= | |
| NM_012238.5:c.994T>C MANE Select | NP_036370.2:p.Leu332= | |
| NM_001142498.2:c.109T>C | NP_001135970.1:p.Leu37= |