ClinVar RCV:
ClinVar Variation:
gnomAD v4:
Revel Score:
ENST00000323060
0.755
ENST00000263275 (MANE Select)
0.755
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45584725A>C , CM000681.2:g.45584725A>C | GRCh38 |
| NC_000019.9:g.46087983A>C , CM000681.1:g.46087983A>C | GRCh37 |
| NC_000019.8:g.50779823A>C | NCBI36 |
| NG_013332.1:g.5140T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323060.4:c.40T>G | ENSP00000319817.3:p.Leu14Val | |
| ENST00000263275.5:c.40T>G MANE Select | ENSP00000263275.4:p.Leu14Val | |
| ENST00000263275.4:c.40T>G | ENSP00000263275.3:p.Leu14Val | |
| ENST00000323060.3:c.40T>G | ENSP00000319817.3:p.Leu14Val | |
| ENST00000544371.1:c.-18+17370T>G | ENSP00000442839.1:n.-18+17370T>G | |
| NM_001017989.2:c.40T>G | NP_001017989.2:p.Leu14Val | |
| NM_025136.3:c.40T>G | NP_079412.1:p.Leu14Val | |
| NM_001017989.3:c.40T>G | NP_001017989.2:p.Leu14Val | |
| NM_025136.4:c.40T>G MANE Select | NP_079412.1:p.Leu14Val |