Revel Score:
ENST00000356231 (MANE Select)
0.178
ENST00000267892
0.178
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42731284T>A , CM000677.2:g.42731284T>A | GRCh38 |
| NC_000015.9:g.43023482T>A , CM000677.1:g.43023482T>A | GRCh37 |
| NC_000015.8:g.40810774T>A | NCBI36 |
| NG_012491.1:g.10936A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356231.4:c.1787A>T MANE Select | ENSP00000348564.3:p.Gln596Leu | |
| ENST00000643434.1:c.*965A>T | ENSP00000494699.1:n.*965A>T | |
| ENST00000356231.3:c.1787A>T | ENSP00000348564.3:p.Gln596Leu | |
| NM_138477.2:c.1787A>T | NP_612486.2:p.Gln596Leu | |
| XM_005254176.3:c.1790A>T | XP_005254233.1:p.Gln597Leu | |
| XM_011521270.1:c.1814A>T | XP_011519572.1:p.Gln605Leu | |
| XM_011521271.1:c.1811A>T | XP_011519573.1:p.Gln604Leu | |
| XM_011521272.1:c.1814A>T | XP_011519574.1:p.Gln605Leu | |
| XM_011521273.1:c.1814A>T | XP_011519575.1:p.Gln605Leu | |
| XM_011521274.1:c.779A>T | XP_011519576.1:p.Gln260Leu | |
| XM_011521275.1:c.1031A>T | XP_011519577.1:p.Gln344Leu | |
| XR_931757.1:n.1825A>T | ||
| NM_138477.4:c.1787A>T MANE Select | NP_612486.2:p.Gln596Leu | |
| XM_005254176.5:c.1790A>T | XP_005254233.1:p.Gln597Leu | |
| XM_011521270.2:c.1814A>T | XP_011519572.1:p.Gln605Leu | |
| XM_011521271.2:c.1811A>T | XP_011519573.1:p.Gln604Leu | |
| XM_011521274.2:c.779A>T | XP_011519576.1:p.Gln260Leu | |
| XR_001751104.1:n.1844A>T | ||
| XR_001751105.1:n.1844A>T | ||
| XR_931757.2:n.1845A>T |