ClinGen Evidence Repository:
Classification
Likely Pathogenic
Revel Score:
ENST00000373203 (MANE Select)
0.478
ENST00000344849
0.478
ENST00000545345
0.478
ENST00000546301
0.478
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127825722A>G , CM000671.2:g.127825722A>G | GRCh38 |
| NC_000009.11:g.130588001A>G , CM000671.1:g.130588001A>G | GRCh37 |
| NC_000009.10:g.129627822A>G | NCBI36 |
| NG_009551.1:g.34047T>C , LRG_589:g.34047T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.116T>C | ENSP00000479015.1:p.Leu39Pro | |
| ENST00000373203.9:c.662T>C MANE Select | ENSP00000362299.4:p.Leu221Pro | |
| ENST00000344849.4:c.662T>C | ENSP00000341917.3:p.Leu221Pro | |
| ENST00000373203.8:c.662T>C | ENSP00000362299.4:p.Leu221Pro | |
| ENST00000480266.5:c.116T>C | ENSP00000479015.1:p.Leu39Pro | |
| NM_000118.3:c.662T>C , LRG_589t1:c.662T>C | NP_000109.1:p.Leu221Pro | |
| NM_001114753.2:c.662T>C , LRG_589t2:c.662T>C | NP_001108225.1:p.Leu221Pro | |
| NM_001278138.1:c.116T>C | NP_001265067.1:p.Leu39Pro | |
| XR_001746952.2:n.82+264A>G | ||
| NM_001114753.3:c.662T>C MANE Select | NP_001108225.1:p.Leu221Pro | |
| NM_001278138.2:c.116T>C | NP_001265067.1:p.Leu39Pro |