Revel Score:
ENST00000222139 (MANE Select)
0.060
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11378051T>G , CM000681.2:g.11378051T>G | GRCh38 |
| NC_000019.9:g.11488727T>G , CM000681.1:g.11488727T>G | GRCh37 |
| NC_000019.8:g.11349727T>G | NCBI36 |
| NG_021395.1:g.11292A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222139.11:c.1460A>C MANE Select | ENSP00000222139.5:p.Asn487Thr | |
| ENST00000222139.10:c.1460A>C | ENSP00000222139.5:p.Asn487Thr | |
| ENST00000586890.5:c.*1203A>C | ENSP00000467230.1:n.*1203A>C | |
| ENST00000588681.5:n.1845A>C | ||
| ENST00000588859.5:c.*1203A>C | ENSP00000466784.1:n.*1203A>C | |
| ENST00000591958.5:c.*838A>C | ENSP00000468187.1:n.*838A>C | |
| ENST00000592375.6:c.*568A>C | ENSP00000467809.2:n.*568A>C | |
| NM_000121.3:c.1460A>C | NP_000112.1:p.Asn487Thr | |
| NR_033663.1:n.1845A>C | ||
| NM_000121.4:c.1460A>C MANE Select | NP_000112.1:p.Asn487Thr | |
| NR_033663.2:n.1817A>C |