Revel Score:
ENST00000367698 (MANE Select)
0.815
ENST00000351522
0.815
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173903975T>A , CM000663.2:g.173903975T>A | GRCh38 |
| NC_000001.10:g.173873113T>A , CM000663.1:g.173873113T>A | GRCh37 |
| NC_000001.9:g.172139736T>A | NCBI36 |
| NG_012462.1:g.18404A>T , LRG_577:g.18404A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.1309A>T MANE Select | ENSP00000356671.3:p.Asn437Tyr | |
| ENST00000367698.3:c.1309A>T | ENSP00000356671.3:p.Asn437Tyr | |
| ENST00000617423.4:c.694A>T | ENSP00000478688.1:p.Asn232Tyr | |
| NM_000488.3:c.1309A>T , LRG_577t1:c.1309A>T | NP_000479.1:p.Asn437Tyr | |
| XM_005245198.2:c.1165A>T | XP_005245255.1:p.Asn389Tyr | |
| NM_001365052.1:c.1165A>T | NP_001351981.1:p.Asn389Tyr | |
| NM_000488.4:c.1309A>T MANE Select | NP_000479.1:p.Asn437Tyr | |
| NM_001365052.2:c.1165A>T | NP_001351981.1:p.Asn389Tyr | |
| NM_001386302.1:c.1432A>T | NP_001373231.1:p.Asn478Tyr | |
| NM_001386303.1:c.1390A>T | NP_001373232.1:p.Asn464Tyr | |
| NM_001386304.1:c.1288A>T | NP_001373233.1:p.Asn430Tyr | |
| NM_001386305.1:c.1252A>T | NP_001373234.1:p.Asn418Tyr | |
| NM_001386306.1:c.1093A>T | NP_001373235.1:p.Asn365Tyr |