Revel Score:
ENST00000261590 (MANE Select)
0.456
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31522136A>C , CM000680.2:g.31522136A>C | GRCh38 |
| NC_000018.9:g.29102099A>C , CM000680.1:g.29102099A>C | GRCh37 |
| NC_000018.8:g.27356097A>C | NCBI36 |
| NG_007072.3:g.28895A>C , LRG_397:g.28895A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682087.2:n.408A>C | ||
| ENST00000682241.2:c.577A>C | ENSP00000507600.2:p.Asn193His | |
| ENST00000683614.2:n.408A>C | ||
| ENST00000682087.1:c.408A>C | ||
| ENST00000682241.1:c.408A>C | ||
| ENST00000683614.1:c.408A>C | ||
| ENST00000683654.1:c.577A>C | ENSP00000506971.1:p.Asn193His | |
| ENST00000684461.1:n.1247A>C | ||
| ENST00000261590.13:c.577A>C MANE Select | ENSP00000261590.8:p.Asn193His | |
| ENST00000261590.12:c.577A>C | ENSP00000261590.8:p.Asn193His | |
| ENST00000585206.1:c.577A>C | ENSP00000462503.1:p.Asn193His | |
| NM_001943.3:c.577A>C , LRG_397t1:c.577A>C | NP_001934.2:p.Asn193His | |
| NM_001943.4:c.577A>C | NP_001934.2:p.Asn193His | |
| XM_024451095.1:c.43A>C | XP_024306863.1:p.Asn15His | |
| NM_001943.5:c.577A>C MANE Select | NP_001934.2:p.Asn193His |