Revel Score:
ENST00000472374
0.026
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00048943 (SAS)
Exomes Max Group AF
0.00051076 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.41940168G>C , CM000684.2:g.41940168G>C | GRCh38 |
| NC_000022.10:g.42336172G>C , CM000684.1:g.42336172G>C | GRCh37 |
| NC_000022.9:g.40666118G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215980.10:c.403-972C>G MANE Select | ENSP00000215980.5:n.403-972C>G | |
| ENST00000215980.9:c.403-972C>G | ENSP00000215980.5:n.403-972C>G | |
| ENST00000402338.5:c.301-972C>G | ENSP00000384731.1:n.301-972C>G | |
| ENST00000402420.1:c.*8-972C>G | ENSP00000384132.1:n.*8-972C>G | |
| ENST00000404067.5:c.209-972C>G | ENSP00000384814.1:n.209-972C>G | |
| ENST00000407253.7:c.311-972C>G | ENSP00000384743.3:n.311-972C>G | |
| ENST00000472374.6:c.7C>G | ENSP00000430624.1:p.Arg3Gly | |
| NM_001002876.2:c.311-972C>G | NP_001002876.1:n.311-972C>G | |
| NM_001110215.2:c.7C>G | NP_001103685.1:p.Arg3Gly | |
| NM_001304370.1:c.301-972C>G | NP_001291299.1:n.301-972C>G | |
| NM_001304372.1:c.*8-972C>G | NP_001291301.1:n.*8-972C>G | |
| NM_001304373.1:c.209-972C>G | NP_001291302.1:n.209-972C>G | |
| NM_024053.4:c.403-972C>G | NP_076958.1:n.403-972C>G | |
| XM_011530368.1:c.402+3442C>G | XP_011528670.1:n.402+3442C>G | |
| XM_011530368.2:c.402+3442C>G | XP_011528670.1:n.402+3442C>G | |
| NM_024053.5:c.403-972C>G MANE Select | NP_076958.1:n.403-972C>G | |
| NM_001002876.3:c.311-972C>G | NP_001002876.1:n.311-972C>G | |
| NM_001110215.3:c.7C>G | NP_001103685.1:p.Arg3Gly | |
| NM_001304370.2:c.301-972C>G | NP_001291299.1:n.301-972C>G | |
| NM_001304372.2:c.*8-972C>G | NP_001291301.1:n.*8-972C>G | |
| NM_001304373.2:c.209-972C>G | NP_001291302.1:n.209-972C>G |