COSMIC:
COSN6595484 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.26400606 (NFE)
Genomes Max Group AF
0.26518933 (NFE)
Exomes Max Group AF
0.23882637 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.2762169C>T , CM000669.2:g.2762169C>T | GRCh38 |
| NC_000007.13:g.2801803C>T , CM000669.1:g.2801803C>T | GRCh37 |
| NC_000007.12:g.2768329C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000275364.8:c.526-28668G>A (GNA12) MANE Select | ENSP00000275364.3:n.526-28668G>A | |
| ENST00000275364.7:c.526-28668G>A (GNA12) | ENSP00000275364.3:n.526-28668G>A | |
| ENST00000407653.1:c.297+423G>A (GNA12) | ENSP00000386054.1:n.297+423G>A | |
| ENST00000407904.7:c.349-28668G>A (GNA12) | ENSP00000385935.3:n.349-28668G>A | |
| ENST00000471281.5:n.427-28668G>A (GNA12) | ||
| ENST00000489665.1:n.551-2543C>T (AMZ1) | ||
| ENST00000491117.5:n.134+907G>A (GNA12) | ||
| ENST00000496740.6:n.472+1G>A (GNA12) | ||
| NM_001282440.1:c.297+423G>A (GNA12) | NP_001269369.1:n.297+423G>A | |
| NM_001282441.1:c.349-28668G>A (GNA12) | NP_001269370.1:n.349-28668G>A | |
| NM_001293092.1:c.526-30419G>A (GNA12) | NP_001280021.1:n.526-30419G>A | |
| NM_007353.2:c.526-28668G>A (GNA12) | NP_031379.2:n.526-28668G>A | |
| XM_011515151.1:c.779-2543C>T (AMZ1) | XP_011513453.1:n.779-2543C>T | |
| XM_011515288.1:c.235-28668G>A (GNA12) | XP_011513590.1:n.235-28668G>A | |
| NM_001321766.1:c.949-2543C>T (AMZ1) | NP_001308695.1:n.949-2543C>T | |
| XM_011515151.3:c.779-2543C>T (AMZ1) | XP_011513453.1:n.779-2543C>T | |
| XM_011515288.3:c.235-28668G>A (GNA12) | XP_011513590.1:n.235-28668G>A | |
| XM_017011774.2:c.779-2543C>T (AMZ1) | XP_016867263.1:n.779-2543C>T | |
| NM_007353.3:c.526-28668G>A (GNA12) MANE Select | NP_031379.2:n.526-28668G>A | |
| NM_001282441.2:c.349-28668G>A (GNA12) | NP_001269370.1:n.349-28668G>A | |
| NM_001293092.2:c.526-30419G>A (GNA12) | NP_001280021.1:n.526-30419G>A | |
| NM_001321766.2:c.949-2543C>T (AMZ1) | NP_001308695.1:n.949-2543C>T |