ClinGen Evidence Repository:
Classification
Pathogenic
Revel Score:
ENST00000373203 (MANE Select)
0.762
ENST00000344849
0.762
ENST00000545345
0.762
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127826586C>G , CM000671.2:g.127826586C>G | GRCh38 |
| NC_000009.11:g.130588865C>G , CM000671.1:g.130588865C>G | GRCh37 |
| NC_000009.10:g.129628686C>G | NCBI36 |
| NG_009551.1:g.33183G>C , LRG_589:g.33183G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.-100G>C | ENSP00000479015.1:n.-100G>C | |
| ENST00000373203.9:c.447G>C MANE Select | ENSP00000362299.4:p.Trp149Cys | |
| ENST00000344849.4:c.447G>C | ENSP00000341917.3:p.Trp149Cys | |
| ENST00000373203.8:c.447G>C | ENSP00000362299.4:p.Trp149Cys | |
| ENST00000462196.1:n.347G>C | ||
| ENST00000480266.5:c.-100G>C | ENSP00000479015.1:n.-100G>C | |
| NM_000118.3:c.447G>C , LRG_589t1:c.447G>C | NP_000109.1:p.Trp149Cys | |
| NM_001114753.2:c.447G>C , LRG_589t2:c.447G>C | NP_001108225.1:p.Trp149Cys | |
| NM_001278138.1:c.-100G>C | NP_001265067.1:n.-100G>C | |
| XR_001746952.2:n.82+1128C>G | ||
| NM_001114753.3:c.447G>C MANE Select | NP_001108225.1:p.Trp149Cys | |
| NM_001278138.2:c.-100G>C | NP_001265067.1:n.-100G>C |