Revel Score:
ENST00000356231 (MANE Select)
0.390
ENST00000267892
0.390
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42730760G>A , CM000677.2:g.42730760G>A | GRCh38 |
| NC_000015.9:g.43022958G>A , CM000677.1:g.43022958G>A | GRCh37 |
| NC_000015.8:g.40810250G>A | NCBI36 |
| NG_012491.1:g.11460C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356231.4:c.2012C>T MANE Select | ENSP00000348564.3:p.Pro671Leu | |
| ENST00000643434.1:c.*1190C>T | ENSP00000494699.1:n.*1190C>T | |
| ENST00000356231.3:c.2012C>T | ENSP00000348564.3:p.Pro671Leu | |
| ENST00000562465.5:c.5C>T | ENSP00000454246.1:p.Pro2Leu | |
| NM_138477.2:c.2012C>T | NP_612486.2:p.Pro671Leu | |
| XM_005254176.3:c.2015C>T | XP_005254233.1:p.Pro672Leu | |
| XM_011521270.1:c.2039C>T | XP_011519572.1:p.Pro680Leu | |
| XM_011521271.1:c.2036C>T | XP_011519573.1:p.Pro679Leu | |
| XM_011521272.1:c.2039C>T | XP_011519574.1:p.Pro680Leu | |
| XM_011521273.1:c.2039C>T | XP_011519575.1:p.Pro680Leu | |
| XM_011521274.1:c.1004C>T | XP_011519576.1:p.Pro335Leu | |
| XM_011521275.1:c.1256C>T | XP_011519577.1:p.Pro419Leu | |
| XR_931757.1:n.2012C>T | ||
| NM_138477.4:c.2012C>T MANE Select | NP_612486.2:p.Pro671Leu | |
| XM_005254176.5:c.2015C>T | XP_005254233.1:p.Pro672Leu | |
| XM_011521270.2:c.2039C>T | XP_011519572.1:p.Pro680Leu | |
| XM_011521271.2:c.2036C>T | XP_011519573.1:p.Pro679Leu | |
| XM_011521274.2:c.1004C>T | XP_011519576.1:p.Pro335Leu | |
| XR_001751104.1:n.2069C>T | ||
| XR_001751105.1:n.2069C>T | ||
| XR_931757.2:n.2032C>T |