Revel Score:
ENST00000155840 (MANE Select)
0.937
ENST00000335475
0.937
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2585266C>A , CM000673.2:g.2585266C>A | GRCh38 |
| NC_000011.9:g.2606496C>A , CM000673.1:g.2606496C>A | GRCh37 |
| NC_000011.8:g.2563072C>A | NCBI36 |
| NG_008935.1:g.145276C>A , LRG_287:g.145276C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.771+1721C>A | ENSP00000434560.2:n.771+1721C>A | |
| ENST00000646564.2:c.588+1721C>A | ENSP00000495806.2:n.588+1721C>A | |
| ENST00000155840.12:c.1087C>A MANE Select | ENSP00000155840.2:p.His363Asn | |
| ENST00000335475.6:c.706C>A | ENSP00000334497.5:p.His236Asn | |
| ENST00000646564.1:c.234+1721C>A | ENSP00000495806.1:n.234+1721C>A | |
| ENST00000155840.9:c.1087C>A | ENSP00000155840.2:p.His363Asn | |
| ENST00000335475.5:c.706C>A | ENSP00000334497.5:p.His236Asn | |
| NM_000218.2:c.1087C>A , LRG_287t1:c.1087C>A | NP_000209.2:p.His363Asn | |
| NM_181798.1:c.706C>A , LRG_287t2:c.706C>A | NP_861463.1:p.His236Asn | |
| NM_000218.3:c.1087C>A MANE Select | NP_000209.2:p.His363Asn |