ClinGen Evidence Repository:
Classification
Uncertain Significance
Revel Score:
ENST00000344691
0.226
ENST00000300305
0.226
ENST00000437180
0.226
ENST00000325074
0.226
ENST00000399240
0.226
ENST00000399245
0.226
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34792301G>A , CM000683.2:g.34792301G>A | GRCh38 |
| NC_000021.8:g.36164598G>A , CM000683.1:g.36164598G>A | GRCh37 |
| NC_000021.7:g.35086468G>A | NCBI36 |
| NG_011402.2:g.1197411C>T , LRG_482:g.1197411C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.1277C>T MANE Select | ENSP00000501943.1:p.Pro426Leu | |
| ENST00000300305.7:c.1277C>T | ENSP00000300305.3:p.Pro426Leu | |
| ENST00000344691.8:c.1196C>T | ENSP00000340690.4:p.Pro399Leu | |
| ENST00000399240.5:c.1004C>T | ENSP00000382184.1:p.Pro335Leu | |
| ENST00000437180.5:c.1277C>T | ENSP00000409227.1:p.Pro426Leu | |
| ENST00000482318.5:c.*867C>T | ENSP00000477067.1:n.*867C>T | |
| NM_001001890.2:c.1196C>T | NP_001001890.1:p.Pro399Leu | |
| NM_001754.4:c.1277C>T , LRG_482t1:c.1277C>T | NP_001745.2:p.Pro426Leu | |
| XM_005261068.3:c.1241C>T | XP_005261125.1:p.Pro414Leu | |
| XM_005261069.3:c.1085C>T | XP_005261126.1:p.Pro362Leu | |
| XM_011529766.1:c.1277C>T | XP_011528068.1:p.Pro426Leu | |
| XM_011529767.1:c.1238C>T | XP_011528069.1:p.Pro413Leu | |
| XM_011529768.1:c.1046C>T | XP_011528070.1:p.Pro349Leu | |
| XM_005261069.4:c.1085C>T | XP_005261126.1:p.Pro362Leu | |
| XM_011529766.2:c.1277C>T | XP_011528068.1:p.Pro426Leu | |
| XM_011529767.2:c.1238C>T | XP_011528069.1:p.Pro413Leu | |
| XM_011529768.2:c.1046C>T | XP_011528070.1:p.Pro349Leu | |
| XM_017028487.1:c.1124C>T | XP_016883976.1:p.Pro375Leu | |
| NM_001001890.3:c.1196C>T | NP_001001890.1:p.Pro399Leu | |
| NM_001754.5:c.1277C>T MANE Select | NP_001745.2:p.Pro426Leu |