Revel Score:
ENST00000316623 (MANE Select)
0.969
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48422017T>A , CM000677.2:g.48422017T>A | GRCh38 |
| NC_000015.9:g.48714214T>A , CM000677.1:g.48714214T>A | GRCh37 |
| NC_000015.8:g.46501506T>A | NCBI36 |
| NG_008805.2:g.228772A>T , LRG_778:g.228772A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*313A>T | ENSP00000453958.2:n.*313A>T | |
| ENST00000674301.2:c.*1018A>T | ENSP00000501333.2:n.*1018A>T | |
| ENST00000682170.1:n.1686A>T | ||
| ENST00000682767.1:n.802A>T | ||
| ENST00000316623.10:c.7505A>T MANE Select | ENSP00000325527.5:p.Asn2502Ile | |
| ENST00000674301.1:c.2671A>T | ENSP00000501333.1:n.2671A>T | |
| ENST00000316623.9:c.7505A>T | ENSP00000325527.5:p.Asn2502Ile | |
| ENST00000559133.5:c.2874A>T | ||
| NM_000138.4:c.7505A>T , LRG_778t1:c.7505A>T | NP_000129.3:p.Asn2502Ile | |
| NM_000138.5:c.7505A>T MANE Select | NP_000129.3:p.Asn2502Ile |