Revel Score:
ENST00000370192 (MANE Select)
0.943
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.97691787A>T , CM000663.2:g.97691787A>T | GRCh38 |
| NC_000001.10:g.98157343A>T , CM000663.1:g.98157343A>T | GRCh37 |
| NC_000001.9:g.97929931A>T | NCBI36 |
| NG_008807.2:g.234273T>A , LRG_722:g.234273T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370192.8:c.692T>A MANE Select | ENSP00000359211.3:p.Ile231Asn | |
| ENST00000370192.7:c.692T>A | ENSP00000359211.3:p.Ile231Asn | |
| ENST00000474241.1:n.456T>A | ||
| NM_000110.3:c.692T>A , LRG_722t1:c.692T>A | NP_000101.2:p.Ile231Asn | |
| XM_005270562.3:c.692T>A | XP_005270619.2:p.Ile231Asn | |
| XM_006710397.2:c.692T>A | XP_006710460.1:p.Ile231Asn | |
| XM_006710397.3:c.692T>A | XP_006710460.1:p.Ile231Asn | |
| XM_017000507.1:c.581T>A | XP_016855996.1:p.Ile194Asn | |
| XM_017000508.2:c.197T>A | XP_016855997.1:p.Ile66Asn | |
| XM_017000509.2:c.197T>A | XP_016855998.1:p.Ile66Asn | |
| XM_017000510.1:c.197T>A | XP_016855999.1:p.Ile66Asn | |
| NM_000110.4:c.692T>A MANE Select | NP_000101.2:p.Ile231Asn |