COSMIC:
COSN6661918 (not active)
COSN7812771 (not active)
Revel Score:
ENST00000415860
0.044
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.70562337 (SAS)
Genomes Max Group AF
0.70317573 (SAS)
Exomes Max Group AF
0.70475427 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8175711G>C , CM000679.2:g.8175711G>C | GRCh38 |
| NC_000017.10:g.8079029G>C , CM000679.1:g.8079029G>C | GRCh37 |
| NC_000017.9:g.8019754G>C | NCBI36 |
| NG_054916.1:g.5701C>G | |
| NG_056674.1:g.2878C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437139.7:c.256+46C>G MANE Select | ENSP00000402732.2:n.256+46C>G | |
| ENST00000316425.9:c.274+46C>G | ENSP00000314116.5:n.274+46C>G | |
| ENST00000417073.2:n.447+46C>G | ||
| ENST00000431792.2:c.155+248C>G | ENSP00000389420.2:n.155+248C>G | |
| ENST00000437139.6:c.256+46C>G | ENSP00000402732.2:n.256+46C>G | |
| ENST00000449985.6:c.87+489C>G | ENSP00000404753.2:n.87+489C>G | |
| ENST00000526920.1:n.636+46C>G | ||
| ENST00000529756.1:n.631+46C>G | ||
| ENST00000532998.5:c.302C>G | ENSP00000433148.1:p.Ser101Ter | |
| ENST00000533070.5:c.274+46C>G | ENSP00000436674.1:n.274+46C>G | |
| NM_032354.3:c.274+46C>G | NP_115730.2:n.274+46C>G | |
| NM_183065.2:c.256+46C>G | NP_898888.1:n.256+46C>G | |
| XR_934201.1:n.252+837G>C | ||
| NM_001351278.1:c.274+46C>G | NP_001338207.1:n.274+46C>G | |
| NM_001351279.1:c.256+46C>G | NP_001338208.1:n.256+46C>G | |
| NM_001351280.1:c.155+248C>G | NP_001338209.1:n.155+248C>G | |
| NM_032354.4:c.274+46C>G | NP_115730.2:n.274+46C>G | |
| NM_183065.3:c.256+46C>G | NP_898888.1:n.256+46C>G | |
| NR_147092.1:n.212+489C>G | ||
| XR_934201.2:n.252+837G>C | ||
| NM_001351278.2:c.274+46C>G | NP_001338207.1:n.274+46C>G | |
| NM_001351279.2:c.256+46C>G | NP_001338208.1:n.256+46C>G | |
| NM_001351280.2:c.155+248C>G | NP_001338209.1:n.155+248C>G | |
| NM_032354.5:c.274+46C>G | NP_115730.2:n.274+46C>G | |
| NM_183065.4:c.256+46C>G MANE Select | NP_898888.1:n.256+46C>G | |
| NR_147092.2:n.181+489C>G |