Revel Score:
ENST00000373113 (MANE Select)
0.031
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001107 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00000931 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.41159035G>A , CM000668.2:g.41159035G>A | GRCh38 |
| NC_000006.11:g.41126773G>A , CM000668.1:g.41126773G>A | GRCh37 |
| NC_000006.10:g.41234751G>A | NCBI36 |
| NG_011561.1:g.9150C>T , LRG_631:g.9150C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373113.8:c.514C>T MANE Select | ENSP00000362205.3:p.Pro172Ser | |
| ENST00000338469.3:c.483-255C>T | ENSP00000342651.4:n.483-255C>T | |
| ENST00000373113.7:c.514C>T | ENSP00000362205.3:p.Pro172Ser | |
| ENST00000373122.8:c.554C>T | ENSP00000362214.4:p.Thr185Ile | |
| NM_001271821.1:c.483-255C>T | NP_001258750.1:n.483-255C>T | |
| NM_018965.3:c.514C>T , LRG_631t1:c.514C>T | NP_061838.1:p.Pro172Ser | |
| XM_006715116.2:c.253C>T | XP_006715179.1:p.Pro85Ser | |
| XR_926795.1:n.222+3472G>A | ||
| XR_926796.1:n.214+3472G>A | ||
| XR_926797.1:n.188+3472G>A | ||
| XR_926795.2:n.517+3472G>A | ||
| XR_926797.2:n.232+3472G>A | ||
| NM_001271821.2:c.483-255C>T | NP_001258750.1:n.483-255C>T | |
| NM_018965.4:c.514C>T MANE Select | NP_061838.1:p.Pro172Ser |