Revel Score:
ENST00000316623 (MANE Select)
0.971
ENST00000389087
0.971
ENST00000544030
0.971
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48437027T>G , CM000677.2:g.48437027T>G | GRCh38 |
| NC_000015.9:g.48729224T>G , CM000677.1:g.48729224T>G | GRCh37 |
| NC_000015.8:g.46516516T>G | NCBI36 |
| NG_008805.2:g.213762A>C , LRG_778:g.213762A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.6430A>C | ENSP00000453958.2:p.Asn2144His | |
| ENST00000674301.2:c.6430A>C | ENSP00000501333.2:p.Asn2144His | |
| ENST00000682170.1:n.39A>C | ||
| ENST00000316623.10:c.6430A>C MANE Select | ENSP00000325527.5:p.Asn2144His | |
| ENST00000674301.1:c.1429A>C | ENSP00000501333.1:p.Asn477His | |
| ENST00000316623.9:c.6430A>C | ENSP00000325527.5:p.Asn2144His | |
| ENST00000537463.6:c.*2193A>C | ENSP00000440294.2:n.*2193A>C | |
| ENST00000559133.5:c.1737A>C | ||
| NM_000138.4:c.6430A>C , LRG_778t1:c.6430A>C | NP_000129.3:p.Asn2144His | |
| NM_000138.5:c.6430A>C MANE Select | NP_000129.3:p.Asn2144His |