Revel Score:
ENST00000367698 (MANE Select)
0.472
ENST00000351522
0.472
gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173904028G>A , CM000663.2:g.173904028G>A | GRCh38 |
| NC_000001.10:g.173873166G>A , CM000663.1:g.173873166G>A | GRCh37 |
| NC_000001.9:g.172139789G>A | NCBI36 |
| NG_012462.1:g.18351C>T , LRG_577:g.18351C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.1256C>T MANE Select | ENSP00000356671.3:p.Ala419Val | |
| ENST00000367698.3:c.1256C>T | ENSP00000356671.3:p.Ala419Val | |
| ENST00000617423.4:c.641C>T | ENSP00000478688.1:p.Ala214Val | |
| NM_000488.3:c.1256C>T , LRG_577t1:c.1256C>T | NP_000479.1:p.Ala419Val | |
| XM_005245198.2:c.1112C>T | XP_005245255.1:p.Ala371Val | |
| NM_001365052.1:c.1112C>T | NP_001351981.1:p.Ala371Val | |
| NM_000488.4:c.1256C>T MANE Select | NP_000479.1:p.Ala419Val | |
| NM_001365052.2:c.1112C>T | NP_001351981.1:p.Ala371Val | |
| NM_001386302.1:c.1379C>T | NP_001373231.1:p.Ala460Val | |
| NM_001386303.1:c.1337C>T | NP_001373232.1:p.Ala446Val | |
| NM_001386304.1:c.1235C>T | NP_001373233.1:p.Ala412Val | |
| NM_001386305.1:c.1199C>T | NP_001373234.1:p.Ala400Val | |
| NM_001386306.1:c.1040C>T | NP_001373235.1:p.Ala347Val |