Revel Score:
ENST00000260116 (MANE Select)
0.371
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.63086020A>T , CM000670.2:g.63086020A>T | GRCh38 |
| NC_000008.10:g.63998579A>T , CM000670.1:g.63998579A>T | GRCh37 |
| NC_000008.9:g.64161133A>T | NCBI36 |
| NG_016123.1:g.5034T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260116.5:c.2T>A MANE Select | ENSP00000260116.4:p.Met1Lys | |
| ENST00000260116.4:c.2T>A | ENSP00000260116.4:p.Met1Lys | |
| ENST00000521138.1:n.30T>A | ||
| NM_000370.3:c.2T>A MANE Select | NP_000361.1:p.Met1Lys | |
| XM_006716468.2:c.2T>A | XP_006716531.1:p.Met1Lys | |
| XM_006716468.4:c.2T>A | XP_006716531.1:p.Met1Lys |