Revel Score:
ENST00000359999
0.233
ENST00000373631 (MANE Select)
0.233
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.123363039C>T , CM000671.2:g.123363039C>T | GRCh38 |
| NC_000009.11:g.126125318C>T , CM000671.1:g.126125318C>T | GRCh37 |
| NC_000009.10:g.125165139C>T | NCBI36 |
| NG_051311.1:g.13975C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373631.8:c.269C>T MANE Select | ENSP00000362734.3:p.Thr90Ile | |
| ENST00000359999.7:c.269C>T | ENSP00000353092.3:p.Thr90Ile | |
| ENST00000373631.7:c.269C>T | ENSP00000362734.3:p.Thr90Ile | |
| NM_173689.6:c.269C>T | NP_775960.4:p.Thr90Ile | |
| XM_011518556.1:c.269C>T | XP_011516858.1:p.Thr90Ile | |
| XM_011518557.1:c.74C>T | XP_011516859.1:p.Thr25Ile | |
| XM_011518558.1:c.74C>T | XP_011516860.1:p.Thr25Ile | |
| XM_011518556.3:c.269C>T | XP_011516858.1:p.Thr90Ile | |
| XM_011518557.3:c.74C>T | XP_011516859.1:p.Thr25Ile | |
| XM_011518558.3:c.74C>T | XP_011516860.1:p.Thr25Ile | |
| NM_173689.7:c.269C>T MANE Select | NP_775960.4:p.Thr90Ile |