gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00505021 (SAS)
Genomes Max Group AF
0.002582 (SAS)
Exomes Max Group AF
0.00512014 (SAS)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94031856C>G , CM000663.2:g.94031856C>G | GRCh38 |
| NC_000001.10:g.94497412C>G , CM000663.1:g.94497412C>G | GRCh37 |
| NC_000001.9:g.94270000C>G | NCBI36 |
| NG_009073.1:g.94294G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4050G>C MANE Select | ENSP00000359245.3:p.Leu1350= | |
| ENST00000370225.3:c.4050G>C | ENSP00000359245.3:p.Leu1350= | |
| ENST00000536513.5:c.426G>C | ENSP00000439707.2:p.Leu142= | |
| NM_000350.2:c.4050G>C | NP_000341.2:p.Leu1350= | |
| NM_000350.3:c.4050G>C MANE Select | NP_000341.2:p.Leu1350= |