Revel Score:
ENST00000358321 (MANE Select)
0.318
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.24186073A>T , CM000684.2:g.24186073A>T | GRCh38 |
| NC_000022.10:g.24582041A>T , CM000684.1:g.24582041A>T | GRCh37 |
| NC_000022.9:g.22912041A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358321.4:c.1397A>T MANE Select | ENSP00000351075.3:p.Asn466Ile | |
| ENST00000358321.3:c.1397A>T | ENSP00000351075.3:p.Asn466Ile | |
| ENST00000463101.1:n.2290A>T | ||
| NM_019601.3:c.1397A>T | NP_062547.1:p.Asn466Ile | |
| NM_019601.4:c.1397A>T MANE Select | NP_062547.1:p.Asn466Ile |