Revel Score:
ENST00000304748 (MANE Select)
0.026
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.51746963A>T , CM000681.2:g.51746963A>T | GRCh38 |
| NC_000019.9:g.52250216A>T , CM000681.1:g.52250216A>T | GRCh37 |
| NC_000019.8:g.56942028A>T | NCBI36 |
| NG_023426.1:g.9935T>A , LRG_146:g.9935T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000594900.2:c.32T>A | ENSP00000470750.2:p.Ile11Asn | |
| ENST00000600815.2:c.32T>A | ENSP00000472936.2:p.Ile11Asn | |
| ENST00000304748.5:c.32T>A MANE Select | ENSP00000302707.3:p.Ile11Asn | |
| ENST00000304748.4:c.32T>A | ENSP00000302707.3:p.Ile11Asn | |
| ENST00000594900.1:c.32T>A | ENSP00000470750.1:p.Ile11Asn | |
| ENST00000595042.5:c.32T>A | ENSP00000471493.1:p.Ile11Asn | |
| ENST00000600815.1:c.32T>A | ENSP00000472936.1:p.Ile11Asn | |
| NM_001193306.1:c.32T>A | NP_001180235.1:p.Ile11Asn | |
| NM_002029.3:c.32T>A , LRG_146t1:c.32T>A | NP_002020.1:p.Ile11Asn | |
| NM_001193306.2:c.32T>A | NP_001180235.1:p.Ile11Asn | |
| NM_002029.4:c.32T>A MANE Select | NP_002020.1:p.Ile11Asn |