ClinGen Evidence Repository:
Classification
Likely Pathogenic
Revel Score:
ENST00000456850
0.275
ENST00000473378
0.275
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71111440C>A , CM000685.2:g.71111440C>A | GRCh38 |
| NC_000023.10:g.70331290C>A , CM000685.1:g.70331290C>A | GRCh37 |
| NC_000023.9:g.70248015C>A | NCBI36 |
| NG_009088.1:g.5114G>T , LRG_150:g.5114G>T | |
| NG_021141.1:g.349G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000482750.6:c.100G>T | ENSP00000421262.2:p.Glu34Ter | |
| ENST00000696903.1:n.151G>T | ||
| ENST00000374202.7:c.100G>T MANE Select | ENSP00000363318.3:p.Glu34Ter | |
| ENST00000642473.1:n.90G>T | ||
| ENST00000644022.1:n.132G>T | ||
| ENST00000644708.1:n.132G>T | ||
| ENST00000644911.1:n.132G>T | ||
| ENST00000645266.1:c.100G>T | ENSP00000493734.1:p.Glu34Ter | |
| ENST00000645518.1:c.100G>T | ENSP00000493986.1:p.Glu34Ter | |
| ENST00000646106.1:c.100G>T | ENSP00000496437.1:p.Glu34Ter | |
| ENST00000646505.1:c.100G>T | ENSP00000496673.1:p.Glu34Ter | |
| ENST00000647492.1:c.100G>T | ENSP00000495340.1:p.Glu34Ter | |
| ENST00000276110.6:n.111G>T | ||
| ENST00000374188.7:c.-617G>T | ENSP00000363303.3:n.-617G>T | |
| ENST00000374202.6:c.100G>T | ENSP00000363318.2:p.Glu34Ter | |
| ENST00000456850.6:c.9G>T | ENSP00000388967.2:p.Met3Ile | |
| ENST00000464642.5:c.-33G>T | ENSP00000425233.1:n.-33G>T | |
| ENST00000473378.1:c.9G>T | ENSP00000423601.1:p.Met3Ile | |
| ENST00000487883.1:c.-311G>T | ENSP00000423966.1:n.-311G>T | |
| ENST00000512747.3:n.167G>T | ||
| NM_000206.2:c.100G>T , LRG_150t1:c.100G>T | NP_000197.1:p.Glu34Ter | |
| NM_000206.3:c.100G>T MANE Select | NP_000197.1:p.Glu34Ter |