COSMIC:
COSN19700803 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00672428 (EAS)
Genomes Max Group AF
0.00466186 (EAS)
Exomes Max Group AF
0.00680917 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89323804G>A , CM000677.2:g.89323804G>A | GRCh38 |
| NC_000015.9:g.89867035G>A , CM000677.1:g.89867035G>A | GRCh37 |
| NC_000015.8:g.87668039G>A | NCBI36 |
| NG_008218.1:g.15992C>T | |
| NG_008218.2:g.15992C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.2157+11C>T | ENSP00000516154.1:n.2157+11C>T | |
| ENST00000268124.11:c.2157+11C>T MANE Select | ENSP00000268124.5:n.2157+11C>T | |
| ENST00000530292.3:c.1758+11C>T | ENSP00000432885.2:n.1758+11C>T | |
| ENST00000635986.2:c.2157+11C>T | ENSP00000490653.2:n.2157+11C>T | |
| ENST00000636774.1:c.*724+11C>T | ENSP00000489799.1:n.*724+11C>T | |
| ENST00000637238.1:c.854+11C>T | ENSP00000490756.1:n.854+11C>T | |
| ENST00000637264.1:c.1229+11C>T | ||
| ENST00000666746.1:c.1734+11C>T | ||
| ENST00000670281.1:c.477+11C>T | ENSP00000499709.1:n.477+11C>T | |
| ENST00000672071.1:n.2355+11C>T | ||
| ENST00000672923.2:n.2260+11C>T | ||
| ENST00000268124.9:c.2157+11C>T | ENSP00000268124.5:n.2157+11C>T | |
| ENST00000442287.6:c.2157+11C>T | ENSP00000399851.2:n.2157+11C>T | |
| ENST00000526314.2:c.539+11C>T | ||
| ENST00000526398.1:c.306+11C>T | ||
| ENST00000526573.1:n.254C>T | ||
| ENST00000532584.5:n.359+11C>T | ||
| ENST00000533857.1:n.283C>T | ||
| ENST00000631044.2:c.*1540+11C>T | ENSP00000486730.1:n.*1540+11C>T | |
| NM_001126131.1:c.2157+11C>T | NP_001119603.1:n.2157+11C>T | |
| NM_002693.2:c.2157+11C>T | NP_002684.1:n.2157+11C>T | |
| NM_001126131.2:c.2157+11C>T | NP_001119603.1:n.2157+11C>T | |
| NM_002693.3:c.2157+11C>T MANE Select | NP_002684.1:n.2157+11C>T |