ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001533 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.0000146 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55191832G>A , CM000669.2:g.55191832G>A | GRCh38 |
| NC_000007.13:g.55259525G>A , CM000669.1:g.55259525G>A | GRCh37 |
| NC_000007.12:g.55227019G>A | NCBI36 |
| NG_007726.3:g.177801G>A , LRG_304:g.177801G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450046.2:c.2424G>A | ENSP00000413354.2:p.Leu808= | |
| ENST00000700145.1:c.899+33G>A | ||
| ENST00000275493.7:c.2583G>A MANE Select | ENSP00000275493.2:p.Leu861= | |
| ENST00000275493.6:c.2583G>A | ENSP00000275493.2:p.Leu861= | |
| ENST00000442591.5:c.*28+18904G>A | ENSP00000410031.1:n.*28+18904G>A | |
| ENST00000454757.6:c.2448G>A | ENSP00000395243.3:p.Leu816= | |
| ENST00000455089.5:c.2448G>A | ENSP00000415559.1:p.Leu816= | |
| NM_005228.3:c.2583G>A , LRG_304t1:c.2583G>A | NP_005219.2:p.Leu861= | |
| NM_001346897.1:c.2448G>A | NP_001333826.1:p.Leu816= | |
| NM_001346898.1:c.2583G>A | NP_001333827.1:p.Leu861= | |
| NM_001346899.1:c.2448G>A | NP_001333828.1:p.Leu816= | |
| NM_001346900.1:c.2424G>A | NP_001333829.1:p.Leu808= | |
| NM_001346941.1:c.1782G>A | NP_001333870.1:p.Leu594= | |
| NM_005228.4:c.2583G>A | NP_005219.2:p.Leu861= | |
| NM_005228.5:c.2583G>A MANE Select | NP_005219.2:p.Leu861= | |
| NM_001346897.2:c.2448G>A | NP_001333826.1:p.Leu816= | |
| NM_001346898.2:c.2583G>A | NP_001333827.1:p.Leu861= | |
| NM_001346900.2:c.2424G>A | NP_001333829.1:p.Leu808= | |
| NM_001346941.2:c.1782G>A | NP_001333870.1:p.Leu594= | |
| NM_001346899.2:c.2448G>A | NP_001333828.1:p.Leu816= |