Revel Score:
ENST00000357716 (MANE Select)
0.069
ENST00000486284
0.069
ENST00000389336
0.069
ENST00000403881
0.069
ENST00000525747
0.069
ENST00000402647
0.069
ENST00000413492
0.069
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.6861610C>G , CM000665.2:g.6861610C>G | GRCh38 |
| NC_000003.11:g.6903297C>G , CM000665.1:g.6903297C>G | GRCh37 |
| NC_000003.10:g.6878297C>G | NCBI36 |
| NG_029781.1:g.5496C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357716.9:c.222C>G MANE Select | ENSP00000350348.4:p.Asn74Lys | |
| ENST00000357716.8:c.222C>G | ENSP00000350348.4:p.Asn74Lys | |
| ENST00000389335.7:c.222C>G | ENSP00000373986.3:p.Asn74Lys | |
| ENST00000389336.8:c.222C>G | ENSP00000373987.4:p.Asn74Lys | |
| ENST00000440923.7:c.222C>G | ENSP00000412329.3:p.Asn74Lys | |
| ENST00000443259.1:c.*29-22610C>G | ENSP00000404161.1:n.*29-22610C>G | |
| ENST00000448328.6:c.-106+32906C>G | ENSP00000393799.2:n.-106+32906C>G | |
| ENST00000467425.5:c.222C>G | ENSP00000419835.1:p.Asn74Lys | |
| ENST00000486284.5:c.222C>G | ENSP00000417536.1:p.Asn74Lys | |
| NM_000844.3:c.222C>G | NP_000835.1:p.Asn74Lys | |
| NM_181874.2:c.222C>G | NP_870989.1:p.Asn74Lys | |
| XR_940422.1:n.514C>G | ||
| XR_001740134.2:n.496C>G | ||
| XR_001740135.2:n.496C>G | ||
| XR_001740136.2:n.496C>G | ||
| XR_001740137.2:n.496C>G | ||
| NM_000844.4:c.222C>G MANE Select | NP_000835.1:p.Asn74Lys | |
| NM_181874.3:c.222C>G | NP_870989.1:p.Asn74Lys |