COSMIC:
COSM4146610 (not active)
Revel Score:
ENST00000377617
0.112
ENST00000550104
0.112
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.78334926 (NFE)
Genomes Max Group AF
0.77890772 (NFE)
Exomes Max Group AF
0.78331745 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.111599196G>C , CM000674.2:g.111599196G>C | GRCh38 |
| NC_000012.11:g.112037000G>C , CM000674.1:g.112037000G>C | GRCh37 |
| NC_000012.10:g.110521383G>C | NCBI36 |
| NG_011572.1:g.5481C>G | |
| NG_011572.2:g.5481C>G | |
| NG_011572.3:g.5481C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000483311.6:c.-162C>G | ENSP00000446512.2:n.-162C>G | |
| ENST00000643669.2:c.-162C>G | ENSP00000494663.1:n.-162C>G | |
| ENST00000672613.1:c.-162C>G | ENSP00000500649.1:n.-162C>G | |
| ENST00000673436.1:c.-162C>G MANE Select | ENSP00000500925.1:n.-162C>G | |
| ENST00000377617.7:c.319C>G | ENSP00000366843.3:p.Leu107Val | |
| ENST00000483311.5:c.81C>G | ||
| ENST00000535949.5:c.-28+379C>G | ENSP00000439338.1:n.-28+379C>G | |
| ENST00000542287.6:c.-65+379C>G | ENSP00000445583.2:n.-65+379C>G | |
| ENST00000550104.5:c.319C>G | ENSP00000446576.2:p.Leu107Val | |
| ENST00000608853.5:c.-162C>G | ENSP00000476504.1:n.-162C>G | |
| ENST00000616825.4:c.-477C>G | ENSP00000481448.1:n.-477C>G | |
| NM_001310121.1:c.-65+379C>G | NP_001297050.1:n.-65+379C>G | |
| NM_001310123.1:c.-28+379C>G | NP_001297052.1:n.-28+379C>G | |
| NM_002973.3:c.319C>G | NP_002964.3:p.Leu107Val | |
| NR_132311.1:n.481C>G | ||
| NM_001372574.1:c.-162C>G MANE Select | NP_001359503.1:n.-162C>G | |
| NM_002973.4:c.-162C>G | NP_002964.4:n.-162C>G | |
| NR_132311.2:n.120C>G |