Revel Score:
ENST00000271588 (MANE Select)
0.036
ENST00000367492
0.036
gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186095396C>T , CM000663.2:g.186095396C>T | GRCh38 |
| NC_000001.10:g.186064528C>T , CM000663.1:g.186064528C>T | GRCh37 |
| NC_000001.9:g.184331151C>T | NCBI36 |
| NG_011841.1:g.365846C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.10448C>T MANE Select | ENSP00000271588.4:p.Thr3483Ile | |
| ENST00000271588.8:c.10448C>T | ENSP00000271588.4:p.Thr3483Ile | |
| NM_031935.2:c.10448C>T | NP_114141.2:p.Thr3483Ile | |
| XM_011510037.1:c.10163C>T | XP_011508339.1:p.Thr3388Ile | |
| XM_011510038.1:c.10448C>T | XP_011508340.1:p.Thr3483Ile | |
| XM_011510039.1:c.10448C>T | XP_011508341.1:p.Thr3483Ile | |
| XM_011510038.3:c.10448C>T | XP_011508340.1:p.Thr3483Ile | |
| XM_017002437.1:c.8471C>T | XP_016857926.1:p.Thr2824Ile | |
| XM_024450118.1:c.*96C>T | XP_024305886.1:n.*96C>T | |
| NM_031935.3:c.10448C>T MANE Select | NP_114141.2:p.Thr3483Ile |