Revel Score:
ENST00000330722 (MANE Select)
0.948
ENST00000452121
0.948
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52492689A>T , CM000674.2:g.52492689A>T | GRCh38 |
| NC_000012.11:g.52886473A>T , CM000674.1:g.52886473A>T | GRCh37 |
| NC_000012.10:g.51172740A>T | NCBI36 |
| NG_008298.1:g.5709T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330722.7:c.500T>A MANE Select | ENSP00000369317.3:p.Ile167Asn | |
| ENST00000330722.6:c.500T>A | ENSP00000369317.3:p.Ile167Asn | |
| ENST00000549898.5:n.21T>A | ||
| NM_005554.3:c.500T>A | NP_005545.1:p.Ile167Asn | |
| NM_005554.4:c.500T>A MANE Select | NP_005545.1:p.Ile167Asn |