Revel Score:
ENST00000367698 (MANE Select)
0.208
ENST00000351522
0.208
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173903893T>G , CM000663.2:g.173903893T>G | GRCh38 |
| NC_000001.10:g.173873031T>G , CM000663.1:g.173873031T>G | GRCh37 |
| NC_000001.9:g.172139654T>G | NCBI36 |
| NG_012462.1:g.18486A>C , LRG_577:g.18486A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.1391A>C MANE Select | ENSP00000356671.3:p.Lys464Thr | |
| ENST00000367698.3:c.1391A>C | ENSP00000356671.3:p.Lys464Thr | |
| ENST00000617423.4:c.776A>C | ENSP00000478688.1:p.Lys259Thr | |
| NM_000488.3:c.1391A>C , LRG_577t1:c.1391A>C | NP_000479.1:p.Lys464Thr | |
| XM_005245198.2:c.1247A>C | XP_005245255.1:p.Lys416Thr | |
| NM_001365052.1:c.1247A>C | NP_001351981.1:p.Lys416Thr | |
| NM_000488.4:c.1391A>C MANE Select | NP_000479.1:p.Lys464Thr | |
| NM_001365052.2:c.1247A>C | NP_001351981.1:p.Lys416Thr | |
| NM_001386302.1:c.1514A>C | NP_001373231.1:p.Lys505Thr | |
| NM_001386303.1:c.1472A>C | NP_001373232.1:p.Lys491Thr | |
| NM_001386304.1:c.1370A>C | NP_001373233.1:p.Lys457Thr | |
| NM_001386305.1:c.1334A>C | NP_001373234.1:p.Lys445Thr | |
| NM_001386306.1:c.1175A>C | NP_001373235.1:p.Lys392Thr |