Revel Score:
ENST00000218099 (MANE Select)
0.720
ENST00000394090
0.720
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139561665T>A , CM000685.2:g.139561665T>A | GRCh38 |
| NC_000023.10:g.138643824T>A , CM000685.1:g.138643824T>A | GRCh37 |
| NC_000023.9:g.138471490T>A | NCBI36 |
| NG_007994.1:g.35930T>A , LRG_556:g.35930T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218099.7:c.980T>A MANE Select | ENSP00000218099.2:p.Leu327Gln | |
| ENST00000643157.1:n.1647T>A | ||
| ENST00000218099.6:c.980T>A | ENSP00000218099.2:p.Leu327Gln | |
| ENST00000394090.2:c.866T>A | ENSP00000377650.2:p.Leu289Gln | |
| NM_000133.3:c.980T>A , LRG_556t1:c.980T>A | NP_000124.1:p.Leu327Gln | |
| NM_001313913.1:c.866T>A | NP_001300842.1:p.Leu289Gln | |
| XM_005262397.3:c.851T>A | XP_005262454.1:p.Leu284Gln | |
| XM_005262397.4:c.851T>A | XP_005262454.1:p.Leu284Gln | |
| NM_000133.4:c.980T>A MANE Select | NP_000124.1:p.Leu327Gln | |
| NM_001313913.2:c.866T>A | NP_001300842.1:p.Leu289Gln |