Revel Score:
ENST00000367698 (MANE Select)
0.680
ENST00000351522
0.680
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173914845A>T , CM000663.2:g.173914845A>T | GRCh38 |
| NC_000001.10:g.173883983A>T , CM000663.1:g.173883983A>T | GRCh37 |
| NC_000001.9:g.172150606A>T | NCBI36 |
| NG_012462.1:g.7534T>A , LRG_577:g.7534T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.116T>A MANE Select | ENSP00000356671.3:p.Ile39Asn | |
| ENST00000367698.3:c.116T>A | ENSP00000356671.3:p.Ile39Asn | |
| ENST00000494024.1:n.342T>A | ||
| ENST00000617423.4:c.116T>A | ENSP00000478688.1:p.Ile39Asn | |
| NM_000488.3:c.116T>A , LRG_577t1:c.116T>A | NP_000479.1:p.Ile39Asn | |
| XM_005245198.2:c.-29T>A | XP_005245255.1:n.-29T>A | |
| NM_001365052.1:c.-29T>A | NP_001351981.1:n.-29T>A | |
| NM_000488.4:c.116T>A MANE Select | NP_000479.1:p.Ile39Asn | |
| NM_001365052.2:c.-29T>A | NP_001351981.1:n.-29T>A | |
| NM_001386302.1:c.116T>A | NP_001373231.1:p.Ile39Asn | |
| NM_001386303.1:c.197T>A | NP_001373232.1:p.Ile66Asn | |
| NM_001386304.1:c.116T>A | NP_001373233.1:p.Ile39Asn | |
| NM_001386305.1:c.116T>A | NP_001373234.1:p.Ile39Asn | |
| NM_001386306.1:c.116T>A | NP_001373235.1:p.Ile39Asn |