Revel Score:
ENST00000218099 (MANE Select)
0.444
ENST00000394090
0.444
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139561664C>A , CM000685.2:g.139561664C>A | GRCh38 |
| NC_000023.10:g.138643823C>A , CM000685.1:g.138643823C>A | GRCh37 |
| NC_000023.9:g.138471489C>A | NCBI36 |
| NG_007994.1:g.35929C>A , LRG_556:g.35929C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218099.7:c.979C>A MANE Select | ENSP00000218099.2:p.Leu327Ile | |
| ENST00000643157.1:n.1646C>A | ||
| ENST00000218099.6:c.979C>A | ENSP00000218099.2:p.Leu327Ile | |
| ENST00000394090.2:c.865C>A | ENSP00000377650.2:p.Leu289Ile | |
| NM_000133.3:c.979C>A , LRG_556t1:c.979C>A | NP_000124.1:p.Leu327Ile | |
| NM_001313913.1:c.865C>A | NP_001300842.1:p.Leu289Ile | |
| XM_005262397.3:c.850C>A | XP_005262454.1:p.Leu284Ile | |
| XM_005262397.4:c.850C>A | XP_005262454.1:p.Leu284Ile | |
| NM_000133.4:c.979C>A MANE Select | NP_000124.1:p.Leu327Ile | |
| NM_001313913.2:c.865C>A | NP_001300842.1:p.Leu289Ile |