COSMIC:
COSN16658823 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.46937854 (NFE)
Genomes Max Group AF
0.46937854 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2176587A>G , CM000681.2:g.2176587A>G | GRCh38 |
| NC_000019.9:g.2176586A>G , CM000681.1:g.2176586A>G | GRCh37 |
| NC_000019.8:g.2127586A>G | NCBI36 |
| NG_029793.1:g.17439A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686010.1:c.82-4126A>G | ENSP00000510335.1:n.82-4126A>G | |
| ENST00000398665.8:c.82-4126A>G MANE Select | ENSP00000381657.3:n.82-4126A>G | |
| ENST00000398665.7:c.82-4126A>G | ENSP00000381657.3:n.82-4126A>G | |
| ENST00000452696.5:c.82-4126A>G | ENSP00000404284.1:n.82-4126A>G | |
| ENST00000478937.3:c.69-4126A>G | ||
| NM_032482.2:c.82-4126A>G | NP_115871.1:n.82-4126A>G | |
| XM_005259659.2:c.82-4126A>G | XP_005259716.1:n.82-4126A>G | |
| XM_005259660.2:c.82-4126A>G | XP_005259717.1:n.82-4126A>G | |
| XM_006722923.2:c.-539-4126A>G | XP_006722986.1:n.-539-4126A>G | |
| XM_011528359.1:c.82-4126A>G | XP_011526661.1:n.82-4126A>G | |
| XM_011528360.1:c.-222-4126A>G | XP_011526662.1:n.-222-4126A>G | |
| XM_005259659.3:c.82-4126A>G | XP_005259716.1:n.82-4126A>G | |
| XM_005259660.3:c.82-4126A>G | XP_005259717.1:n.82-4126A>G | |
| XM_011528359.2:c.82-4126A>G | XP_011526661.1:n.82-4126A>G | |
| XM_017027366.1:c.-539-4126A>G | XP_016882855.1:n.-539-4126A>G | |
| NM_032482.3:c.82-4126A>G MANE Select | NP_115871.1:n.82-4126A>G |