COSMIC:
COSM148195 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.53068252 (MID)
Genomes Max Group AF
0.5013353 (SAS)
Exomes Max Group AF
0.52868475 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.11883634T>C , CM000679.2:g.11883634T>C | GRCh38 |
| NC_000017.10:g.11786951T>C , CM000679.1:g.11786951T>C | GRCh37 |
| NC_000017.9:g.11727676T>C | NCBI36 |
| NG_047047.1:g.290204T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262442.9:c.10855T>C MANE Select | ENSP00000262442.3:p.Leu3619= | |
| ENST00000262442.8:c.10855T>C | ENSP00000262442.3:p.Leu3619= | |
| ENST00000396001.6:n.318T>C | ||
| ENST00000454412.6:c.10855T>C | ENSP00000414874.2:p.Leu3619= | |
| ENST00000608377.5:c.-210T>C | ENSP00000476951.1:n.-210T>C | |
| NM_001372.3:c.10855T>C | NP_001363.2:p.Leu3619= | |
| NM_004662.2:c.-210T>C | NP_004653.2:n.-210T>C | |
| XM_011523703.1:c.10855T>C | XP_011522005.1:p.Leu3619= | |
| XM_011523703.2:c.10855T>C | XP_011522005.1:p.Leu3619= | |
| XM_017024292.2:c.10738T>C | XP_016879781.1:p.Leu3580= | |
| XM_017024293.1:c.8737T>C | XP_016879782.1:p.Leu2913= | |
| NM_001372.4:c.10855T>C MANE Select | NP_001363.2:p.Leu3619= |