Revel Score:
ENST00000456453
0.335
ENST00000458276
0.335
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.43702470A>G , CM000665.2:g.43702470A>G | GRCh38 |
| NC_000003.11:g.43743962A>G , CM000665.1:g.43743962A>G | GRCh37 |
| NC_000003.10:g.43718966A>G | NCBI36 |
| NG_007090.3:g.16588A>G | |
| NG_007090.5:g.16601A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000013894.3:c.*383A>G | ENSP00000013894.2:n.*383A>G | |
| ENST00000454293.2:c.266A>G | ENSP00000412014.2:p.Gln89Arg | |
| ENST00000458276.7:c.389A>G | ENSP00000390849.3:p.Gln130Arg | |
| ENST00000642351.1:c.266A>G | ENSP00000494478.1:p.Gln89Arg | |
| ENST00000643140.1:c.133+3109A>G | ENSP00000495588.1:n.133+3109A>G | |
| ENST00000643477.1:c.217A>G | ENSP00000496220.1:p.Ser73Gly | |
| ENST00000643500.1:c.389A>G | ENSP00000494735.1:p.Gln130Arg | |
| ENST00000643520.1:n.437A>G | ||
| ENST00000644371.2:c.389A>G MANE Select | ENSP00000495778.1:p.Gln130Arg | |
| ENST00000646378.1:c.*439A>G | ENSP00000495826.1:n.*439A>G | |
| ENST00000646799.1:c.133+3109A>G | ENSP00000494829.1:n.133+3109A>G | |
| ENST00000649763.1:c.389A>G | ENSP00000497701.1:p.Gln130Arg | |
| ENST00000013894.2:c.*383A>G | ENSP00000013894.2:n.*383A>G | |
| ENST00000456453.5:c.266A>G | ENSP00000391582.1:p.Gln89Arg | |
| ENST00000458276.6:c.389A>G | ENSP00000390849.2:p.Gln130Arg | |
| NM_016006.4:c.389A>G | NP_057090.2:p.Gln130Arg | |
| XM_011533779.1:c.266A>G | XP_011532081.1:p.Gln89Arg | |
| XM_011533780.1:c.389A>G | XP_011532082.1:p.Gln130Arg | |
| XR_940447.1:n.446A>G | ||
| NM_001355186.1:c.389A>G | NP_001342115.1:p.Gln130Arg | |
| NM_001365649.1:c.266A>G | NP_001352578.1:p.Gln89Arg | |
| NM_001365650.1:c.389A>G | NP_001352579.1:p.Gln130Arg | |
| NM_016006.5:c.389A>G | NP_057090.2:p.Gln130Arg | |
| NR_158560.1:n.512A>G | ||
| NM_001355186.2:c.389A>G | NP_001342115.1:p.Gln130Arg | |
| NM_016006.6:c.389A>G MANE Select | NP_057090.2:p.Gln130Arg |