COSMIC:
COSM6310306 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.9527967 (AMR)
Genomes Max Group AF
0.9345781 (AMR)
Exomes Max Group AF
0.95580725 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40030351G>T , CM000677.2:g.40030351G>T | GRCh38 |
| NC_000015.9:g.40322552G>T , CM000677.1:g.40322552G>T | GRCh37 |
| NC_000015.8:g.38109844G>T | NCBI36 |
| NG_034053.1:g.101228G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263791.10:c.4562-8G>T MANE Select | ENSP00000263791.5:n.4562-8G>T | |
| ENST00000263791.9:c.4562-8G>T | ENSP00000263791.5:n.4562-8G>T | |
| ENST00000558557.1:n.1554-8G>T | ||
| ENST00000558629.5:n.3479-8G>T | ||
| ENST00000560855.5:c.3894-8G>T | ||
| NM_001013703.3:c.4562-8G>T | NP_001013725.2:n.4562-8G>T | |
| XM_005254392.1:c.4562-8G>T | XP_005254449.1:n.4562-8G>T | |
| XM_011521599.1:c.4562-8G>T | XP_011519901.1:n.4562-8G>T | |
| XM_011521600.1:c.4391-8G>T | XP_011519902.1:n.4391-8G>T | |
| XM_005254392.3:c.4562-8G>T | XP_005254449.1:n.4562-8G>T | |
| XM_011521599.2:c.4562-8G>T | XP_011519901.1:n.4562-8G>T | |
| XM_011521600.3:c.4391-8G>T | XP_011519902.1:n.4391-8G>T | |
| XM_017022219.2:c.4391-8G>T | XP_016877708.1:n.4391-8G>T | |
| NM_001013703.4:c.4562-8G>T MANE Select | NP_001013725.2:n.4562-8G>T |