Revel Score:
ENST00000304636 (MANE Select)
0.201
ENST00000317840
0.201
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189010695T>A , CM000664.2:g.189010695T>A | GRCh38 |
| NC_000002.11:g.189875421T>A , CM000664.1:g.189875421T>A | GRCh37 |
| NC_000002.10:g.189583666T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.3960T>A | ENSP00000415346.2:p.His1320Gln | |
| ENST00000304636.9:c.4059T>A MANE Select | ENSP00000304408.4:p.His1353Gln | |
| ENST00000304636.7:c.4059T>A | ENSP00000304408.3:p.His1353Gln | |
| ENST00000317840.9:c.3150T>A | ENSP00000315243.6:p.His1050Gln | |
| ENST00000487010.1:n.1438T>A | ||
| NM_000090.4:c.4059T>A MANE Select | NP_000081.2:p.His1353Gln |