gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000443 (AFR)
Exomes Max Group AF
0.00000381 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115705276C>G , CM000663.2:g.115705276C>G | GRCh38 |
| NC_000001.10:g.116247897C>G , CM000663.1:g.116247897C>G | GRCh37 |
| NC_000001.9:g.116049420C>G | NCBI36 |
| NG_008802.1:g.68530G>C , LRG_404:g.68530G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488931.2:c.*227G>C | ENSP00000518226.1:n.*227G>C | |
| ENST00000261448.6:c.855G>C MANE Select | ENSP00000261448.5:p.Leu285= | |
| ENST00000261448.5:c.855G>C | ENSP00000261448.5:p.Leu285= | |
| NM_001232.3:c.855G>C , LRG_404t1:c.855G>C | NP_001223.2:p.Leu285= | |
| NM_001232.4:c.855G>C MANE Select | NP_001223.2:p.Leu285= |