gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00033109 (SAS)
Genomes Max Group AF
0.00016906 (SAS)
Exomes Max Group AF
0.00031957 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.67187457C>A , CM000677.2:g.67187457C>A | GRCh38 |
| NC_000015.9:g.67479795C>A , CM000677.1:g.67479795C>A | GRCh37 |
| NC_000015.8:g.65266849C>A | NCBI36 |
| NG_011990.1:g.126601C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558428.6:c.517C>A | ENSP00000454165.2:p.Arg173= | |
| ENST00000558739.2:c.787C>A | ENSP00000453684.2:p.Arg263= | |
| ENST00000558827.2:c.517C>A | ENSP00000452767.2:p.Arg173= | |
| ENST00000559460.6:c.787C>A | ENSP00000453082.2:p.Arg263= | |
| ENST00000560424.2:c.1213C>A | ENSP00000455540.2:p.Arg405= | |
| ENST00000327367.9:c.1102C>A MANE Select | ENSP00000332973.4:p.Arg368= | |
| ENST00000679624.1:c.787C>A | ENSP00000505445.1:p.Arg263= | |
| ENST00000680689.1:n.805C>A | ||
| ENST00000681239.1:c.787C>A | ENSP00000505641.1:p.Arg263= | |
| ENST00000327367.8:c.1102C>A | ENSP00000332973.4:p.Arg368= | |
| ENST00000439724.7:c.970C>A | ENSP00000401133.3:p.Arg324= | |
| ENST00000537194.6:c.517C>A | ENSP00000445348.2:p.Arg173= | |
| ENST00000540846.6:c.787C>A | ENSP00000437757.2:p.Arg263= | |
| ENST00000558763.1:n.796C>A | ||
| ENST00000560402.1:n.283-5416C>A | ||
| ENST00000560424.1:c.294C>A | ||
| NM_001145102.1:c.787C>A | NP_001138574.1:p.Arg263= | |
| NM_001145103.1:c.970C>A | NP_001138575.1:p.Arg324= | |
| NM_001145104.1:c.517C>A | NP_001138576.1:p.Arg173= | |
| NM_005902.3:c.1102C>A | NP_005893.1:p.Arg368= | |
| XM_011521559.1:c.970C>A | XP_011519861.1:p.Arg324= | |
| XM_011521560.1:c.955C>A | XP_011519862.1:p.Arg319= | |
| XM_011521559.3:c.970C>A | XP_011519861.1:p.Arg324= | |
| NM_005902.4:c.1102C>A MANE Select | NP_005893.1:p.Arg368= | |
| NM_001145102.2:c.787C>A | NP_001138574.1:p.Arg263= | |
| NM_001145103.2:c.970C>A | NP_001138575.1:p.Arg324= | |
| NM_001145104.2:c.517C>A | NP_001138576.1:p.Arg173= |