COSMIC:
COSN17140138 (not active)
COSN17151349 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.12499726 (EAS)
Genomes Max Group AF
0.12807643 (EAS)
Exomes Max Group AF
0.12370213 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1221162C>T , CM000681.2:g.1221162C>T | GRCh38 |
| NC_000019.9:g.1221161C>T , CM000681.1:g.1221161C>T | GRCh37 |
| NC_000019.8:g.1172161C>T | NCBI36 |
| NG_007460.2:g.36756C>T , LRG_319:g.36756C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.735-51C>T | ENSP00000490268.2:n.735-51C>T | |
| ENST00000585748.3:c.363-51C>T | ENSP00000477641.2:n.363-51C>T | |
| ENST00000585851.2:c.561-51C>T | ENSP00000467912.2:n.561-51C>T | |
| ENST00000326873.12:c.735-51C>T MANE Select | ENSP00000324856.6:n.735-51C>T | |
| ENST00000652231.1:c.735-51C>T | ENSP00000498804.1:n.735-51C>T | |
| ENST00000326873.11:c.735-51C>T | ENSP00000324856.6:n.735-51C>T | |
| ENST00000586243.5:c.735-51C>T | ENSP00000467240.2:n.735-51C>T | |
| ENST00000586358.5:n.633-51C>T | ||
| ENST00000589152.5:n.825-51C>T | ||
| ENST00000591133.2:n.706-51C>T | ||
| NM_000455.4:c.735-51C>T , LRG_319t1:c.735-51C>T | NP_000446.1:n.735-51C>T | |
| XM_005259617.1:c.735-51C>T | XP_005259674.1:n.735-51C>T | |
| XM_005259618.3:c.735-51C>T | XP_005259675.1:n.735-51C>T | |
| XM_011528209.1:c.513-51C>T | XP_011526511.1:n.513-51C>T | |
| XR_936204.1:n.1360-51C>T | ||
| XM_005259617.3:c.735-51C>T | XP_005259674.1:n.735-51C>T | |
| XM_011528209.2:c.513-51C>T | XP_011526511.1:n.513-51C>T | |
| XR_001753738.2:n.1360-51C>T | ||
| XR_001753739.1:n.1360-51C>T | ||
| XR_001753740.2:n.1360-51C>T | ||
| NM_000455.5:c.735-51C>T MANE Select | NP_000446.1:n.735-51C>T |