COSMIC:
COSN17132713 (not active)
COSN17133535 (not active)
COSN17134345 (not active)
COSN17138991 (not active)
COSN17144751 (not active)
COSN17145620 (not active)
COSN17148324 (not active)
COSN17151019 (not active)
COSN17152101 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.4395122 (EAS)
Genomes Max Group AF
0.4395122 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.20688505A>G , CM000664.2:g.20688505A>G | GRCh38 |
| NC_000002.11:g.20888265A>G , CM000664.1:g.20888265A>G | GRCh37 |
| NC_000002.10:g.20751746A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237822.8:c.787-1411T>C MANE Select | ENSP00000237822.3:n.787-1411T>C | |
| ENST00000237822.7:c.787-1411T>C | ENSP00000237822.3:n.787-1411T>C | |
| ENST00000381090.7:c.787-1411T>C | ENSP00000370480.3:n.787-1411T>C | |
| ENST00000403006.6:c.397-1411T>C | ENSP00000384267.1:n.397-1411T>C | |
| ENST00000435420.6:c.661-1411T>C | ENSP00000388635.3:n.661-1411T>C | |
| ENST00000440866.6:c.*51-1411T>C | ENSP00000400340.2:n.*51-1411T>C | |
| ENST00000470099.1:n.105-1411T>C | ||
| ENST00000541941.5:c.397-1411T>C | ENSP00000440570.1:n.397-1411T>C | |
| ENST00000619656.4:c.397-1411T>C | ENSP00000483067.1:n.397-1411T>C | |
| ENST00000626491.2:c.643-1411T>C | ENSP00000487592.1:n.643-1411T>C | |
| NM_001282719.1:c.661-1411T>C | NP_001269648.1:n.661-1411T>C | |
| NM_001282720.1:c.643-1411T>C | NP_001269649.1:n.643-1411T>C | |
| NM_001282721.1:c.397-1411T>C | NP_001269650.1:n.397-1411T>C | |
| NM_001282722.1:c.397-1411T>C | NP_001269651.1:n.397-1411T>C | |
| NM_001282723.1:c.*51-1411T>C | NP_001269652.1:n.*51-1411T>C | |
| NM_001282724.1:c.*51-1411T>C | NP_001269653.1:n.*51-1411T>C | |
| NM_021925.3:c.787-1411T>C | NP_068744.1:n.787-1411T>C | |
| NR_104233.1:n.492-1411T>C | ||
| XM_011533014.1:c.805-1411T>C | XP_011531316.1:n.805-1411T>C | |
| XR_939700.1:n.908-1411T>C | ||
| XR_939701.1:n.908-1411T>C | ||
| XR_939702.1:n.908-1411T>C | ||
| XR_939703.1:n.673-1411T>C | ||
| XM_011533014.2:c.805-1411T>C | XP_011531316.1:n.805-1411T>C | |
| XR_001738874.1:n.910-1411T>C | ||
| XR_001738875.2:n.910-1411T>C | ||
| XR_001738876.2:n.842-1411T>C | ||
| XR_001738877.2:n.842-1411T>C | ||
| XR_001738878.2:n.660-1411T>C | ||
| XR_001738879.2:n.607-1411T>C | ||
| XR_939700.2:n.910-1411T>C | ||
| XR_939701.2:n.910-1411T>C | ||
| XR_939702.3:n.910-1411T>C | ||
| XR_939703.2:n.675-1411T>C | ||
| NM_021925.4:c.787-1411T>C MANE Select | NP_068744.1:n.787-1411T>C | |
| NM_001282720.2:c.643-1411T>C | NP_001269649.1:n.643-1411T>C | |
| NM_001282724.2:c.*51-1411T>C | NP_001269653.1:n.*51-1411T>C | |
| NR_104233.2:n.463-1411T>C | ||
| NM_001282719.2:c.661-1411T>C | NP_001269648.1:n.661-1411T>C | |
| NM_001282721.2:c.397-1411T>C | NP_001269650.1:n.397-1411T>C | |
| NM_001282722.2:c.397-1411T>C | NP_001269651.1:n.397-1411T>C | |
| NM_001282723.2:c.*51-1411T>C | NP_001269652.1:n.*51-1411T>C |