Revel Score:
ENST00000298545 (MANE Select)
0.687
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132792641G>T , CM000671.2:g.132792641G>T | GRCh38 |
| NC_000009.11:g.135668028G>T , CM000671.1:g.135668028G>T | GRCh37 |
| NC_000009.10:g.134657849G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298545.4:c.1114C>A MANE Select | ENSP00000298545.3:p.Pro372Thr | |
| ENST00000298545.3:c.1114C>A | ENSP00000298545.3:p.Pro372Thr | |
| ENST00000476719.1:n.1551C>A | ||
| ENST00000477396.5:n.2029C>A | ||
| NM_152572.2:c.1114C>A | NP_689785.1:p.Pro372Thr | |
| XM_005272169.2:c.1150C>A | XP_005272226.1:p.Pro384Thr | |
| XM_006716964.2:c.979C>A | XP_006717027.1:p.Pro327Thr | |
| XM_006716965.2:c.898C>A | XP_006717028.1:p.Pro300Thr | |
| XM_011518278.1:c.892C>A | XP_011516580.1:p.Pro298Thr | |
| XM_011518279.1:c.598C>A | XP_011516581.1:p.Pro200Thr | |
| XM_011518280.1:c.502C>A | XP_011516582.1:p.Pro168Thr | |
| XR_929719.1:n.1074+21997C>A | ||
| NM_001317958.1:c.502C>A | NP_001304887.1:p.Pro168Thr | |
| NM_001317959.1:c.598C>A | NP_001304888.1:p.Pro200Thr | |
| XM_011518278.2:c.892C>A | XP_011516580.1:p.Pro298Thr | |
| XM_017014308.1:c.598C>A | XP_016869797.1:p.Pro200Thr | |
| XM_024447419.1:c.502C>A | XP_024303187.1:p.Pro168Thr | |
| XM_024447420.1:c.502C>A | XP_024303188.1:p.Pro168Thr | |
| XR_929719.2:n.1074+21997C>A | ||
| NM_001317958.2:c.502C>A | NP_001304887.1:p.Pro168Thr | |
| NM_001317959.2:c.598C>A | NP_001304888.1:p.Pro200Thr | |
| NM_001371771.1:c.1027C>A | NP_001358700.1:p.Pro343Thr | |
| NM_001371772.1:c.979C>A | NP_001358701.1:p.Pro327Thr | |
| NM_001371773.1:c.502C>A | NP_001358702.1:p.Pro168Thr | |
| NM_001371774.1:c.502C>A | NP_001358703.1:p.Pro168Thr | |
| NM_152572.3:c.1114C>A MANE Select | NP_689785.1:p.Pro372Thr |