Revel Score:
ENST00000545712 (MANE Select)
0.983
ENST00000266839
0.983
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000706 (NFE)
Exomes Max Group AF
0.0000075 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109561056G>A , CM000674.2:g.109561056G>A | GRCh38 |
| NC_000012.11:g.109998861G>A , CM000674.1:g.109998861G>A | GRCh37 |
| NC_000012.10:g.108483244G>A | NCBI36 |
| NG_007096.1:g.17442C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545712.7:c.568C>T MANE Select | ENSP00000445920.1:p.Arg190Cys | |
| ENST00000537496.5:c.*133C>T | ENSP00000444793.1:n.*133C>T | |
| ENST00000540016.5:c.412C>T | ENSP00000474582.1:p.Arg138Cys | |
| ENST00000541763.6:c.793C>T | ENSP00000474981.1:n.793C>T | |
| ENST00000544051.5:c.*449C>T | ENSP00000438079.1:n.*449C>T | |
| ENST00000545712.6:c.568C>T | ENSP00000445920.1:p.Arg190Cys | |
| NM_052845.3:c.568C>T | NP_443077.1:p.Arg190Cys | |
| NR_038118.1:n.728C>T | ||
| XM_011538266.1:c.413C>T | XP_011536568.1:p.Pro138Leu | |
| XM_011538267.1:c.413C>T | XP_011536569.1:p.Pro138Leu | |
| XM_011538268.1:c.295C>T | XP_011536570.1:p.Arg99Cys | |
| XM_011538269.1:c.292C>T | XP_011536571.1:p.Arg98Cys | |
| XM_011538267.3:c.413C>T | XP_011536569.1:p.Pro138Leu | |
| XM_011538268.2:c.295C>T | XP_011536570.1:p.Arg99Cys | |
| XM_011538269.2:c.292C>T | XP_011536571.1:p.Arg98Cys | |
| XM_024448961.1:c.568C>T | XP_024304729.1:p.Arg190Cys | |
| NM_052845.4:c.568C>T MANE Select | NP_443077.1:p.Arg190Cys | |
| NR_038118.2:n.679C>T |