Revel Score:
ENST00000354484
0.688
ENST00000393061
0.688
ENST00000393060
0.688
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133540625C>T , CM000671.2:g.133540625C>T | GRCh38 |
| NC_000009.11:g.136405747C>T , CM000671.1:g.136405747C>T | GRCh37 |
| NC_000009.10:g.135395568C>T | NCBI36 |
| NG_009931.1:g.13462C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651351.2:c.440C>T MANE Select | ENSP00000498961.2:p.Pro147Leu | |
| ENST00000354484.8:c.440C>T | ENSP00000346478.4:p.Pro147Leu | |
| ENST00000393060.1:c.440C>T | ENSP00000376780.1:p.Pro147Leu | |
| ENST00000393061.7:c.767C>T | ENSP00000376781.3:p.Pro256Leu | |
| NM_001145320.1:c.440C>T | NP_001138792.1:p.Pro147Leu | |
| NM_014694.3:c.440C>T | NP_055509.2:p.Pro147Leu | |
| XM_005272237.2:c.767C>T | XP_005272294.1:p.Pro256Leu | |
| XM_005272238.2:c.475C>T | XP_005272295.1:p.Arg159Cys | |
| XM_005272239.2:c.440C>T | XP_005272296.1:p.Pro147Leu | |
| XM_006717337.2:c.440C>T | XP_006717400.1:p.Pro147Leu | |
| XM_011519241.1:c.328C>T | XP_011517543.1:p.Arg110Cys | |
| XM_011519242.1:c.506C>T | XP_011517544.1:p.Pro169Leu | |
| XM_005272237.3:c.767C>T | XP_005272294.1:p.Pro256Leu | |
| XM_005272238.3:c.475C>T | XP_005272295.1:p.Arg159Cys | |
| XM_011519241.2:c.655C>T | XP_011517543.2:p.Arg219Cys | |
| XM_011519242.3:c.506C>T | XP_011517544.1:p.Pro169Leu | |
| NM_014694.4:c.440C>T MANE Select | NP_055509.2:p.Pro147Leu | |
| NM_001145320.2:c.440C>T | NP_001138792.1:p.Pro147Leu |