COSMIC:
COSM149676 (not active)
Revel Score:
ENST00000554144
0.017
ENST00000381260
0.017
ENST00000503864
0.017
ENST00000509435
0.017
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.63207916 (AFR)
Genomes Max Group AF
0.63017664 (AFR)
Exomes Max Group AF
0.6299786 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.56650730G>A , CM000666.2:g.56650730G>A | GRCh38 |
| NC_000004.11:g.57516896G>A , CM000666.1:g.57516896G>A | GRCh37 |
| NC_000004.10:g.57211653G>A | NCBI36 |
| NG_050687.1:g.35977C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337881.12:c.145-1933C>T | ENSP00000337330.7:n.145-1933C>T | |
| ENST00000420433.6:c.199-1933C>T MANE Select | ENSP00000396275.1:n.199-1933C>T | |
| ENST00000317745.11:c.145-1933C>T | ENSP00000315198.7:n.145-1933C>T | |
| ENST00000337881.11:c.145-1933C>T | ENSP00000337330.7:n.145-1933C>T | |
| ENST00000381255.7:c.145-1933C>T | ENSP00000370654.3:n.145-1933C>T | |
| ENST00000381260.7:c.227C>T | ENSP00000370659.2:p.Pro76Leu | |
| ENST00000420433.5:c.199-1933C>T | ENSP00000396275.1:n.199-1933C>T | |
| ENST00000503639.7:c.145-1933C>T | ENSP00000424101.2:n.145-1933C>T | |
| ENST00000503864.2:n.473C>T | ||
| ENST00000508121.2:c.145-1933C>T | ENSP00000422175.2:n.145-1933C>T | |
| ENST00000553379.6:c.145-1933C>T | ENSP00000452340.1:n.145-1933C>T | |
| ENST00000554144.5:c.281C>T | ENSP00000450527.1:p.Pro94Leu | |
| ENST00000555760.6:c.145-1933C>T | ENSP00000452098.1:n.145-1933C>T | |
| ENST00000556376.6:c.145-1933C>T | ENSP00000451794.1:n.145-1933C>T | |
| ENST00000556614.6:c.145-1933C>T | ENSP00000452003.1:n.145-1933C>T | |
| NM_001145459.1:c.145-1933C>T | NP_001138931.1:n.145-1933C>T | |
| NM_001145460.1:c.281C>T | NP_001138932.1:p.Pro94Leu | |
| NM_032495.5:c.199-1933C>T | NP_115884.4:n.199-1933C>T | |
| NM_139211.4:c.145-1933C>T | NP_631957.1:n.145-1933C>T | |
| NM_139212.3:c.145-1933C>T | NP_631958.1:n.145-1933C>T | |
| XM_006714051.2:c.341C>T | XP_006714114.1:p.Pro114Leu | |
| XM_006714052.2:c.281C>T | XP_006714115.1:p.Pro94Leu | |
| XM_011534407.1:c.281C>T | XP_011532709.1:p.Pro94Leu | |
| XM_011534408.1:c.281C>T | XP_011532710.1:p.Pro94Leu | |
| XM_017008728.1:c.190-1933C>T | XP_016864217.1:n.190-1933C>T | |
| XM_017008729.2:c.259-1933C>T | XP_016864218.2:n.259-1933C>T | |
| XM_017008730.2:c.145-1933C>T | XP_016864219.1:n.145-1933C>T | |
| XM_017008731.2:c.145-1933C>T | XP_016864220.1:n.145-1933C>T | |
| XM_017008732.1:c.145-1933C>T | XP_016864221.1:n.145-1933C>T | |
| XM_017008733.1:c.145-1933C>T | XP_016864222.1:n.145-1933C>T | |
| XM_017008734.1:c.145-1933C>T | XP_016864223.1:n.145-1933C>T | |
| NM_032495.6:c.199-1933C>T MANE Select | NP_115884.4:n.199-1933C>T | |
| NM_001145459.2:c.145-1933C>T | NP_001138931.1:n.145-1933C>T | |
| NM_001145460.2:c.281C>T | NP_001138932.1:p.Pro94Leu | |
| NM_139211.5:c.145-1933C>T | NP_631957.1:n.145-1933C>T | |
| NM_139212.4:c.145-1933C>T | NP_631958.1:n.145-1933C>T |