Revel Score:
ENST00000372080 (MANE Select)
0.479
ENST00000351304
0.479
ENST00000303626
0.479
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.05130457 (AFR)
Genomes Max Group AF
0.05111574 (AFR)
Exomes Max Group AF
0.05028503 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133065052T>G , CM000671.2:g.133065052T>G | GRCh38 |
| NC_000009.11:g.135940439T>G , CM000671.1:g.135940439T>G | GRCh37 |
| NC_000009.10:g.134930260T>G | NCBI36 |
| NG_016394.1:g.8075T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372080.8:c.353T>G MANE Select | ENSP00000361151.6:p.Leu118Arg | |
| ENST00000372080.6:c.362T>G | ENSP00000361151.4:p.Leu121Arg | |
| ENST00000621209.1:c.75+2984T>G | ENSP00000480238.1:n.75+2984T>G | |
| NM_001807.4:c.362T>G | NP_001798.2:p.Leu121Arg | |
| NM_001807.5:c.353T>G | NP_001798.3:p.Leu118Arg | |
| NM_001807.6:c.353T>G MANE Select | NP_001798.3:p.Leu118Arg |