gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00016044 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00016847 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.86917140C>A , CM000672.2:g.86917140C>A | GRCh38 |
| NC_000010.10:g.88676897C>A , CM000672.1:g.88676897C>A | GRCh37 |
| NC_000010.9:g.88666877C>A | NCBI36 |
| NG_009362.1:g.165502C>A , LRG_298:g.165502C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480152.3:c.682C>A | ENSP00000483569.2:p.Arg228= | |
| ENST00000635816.2:c.682C>A | ENSP00000489707.1:p.Arg228= | |
| ENST00000636056.2:c.682C>A | ENSP00000490273.1:p.Arg228= | |
| ENST00000372037.8:c.682C>A MANE Select | ENSP00000361107.2:p.Arg228= | |
| ENST00000635816.1:c.682C>A | ENSP00000489707.1:p.Arg228= | |
| ENST00000636056.1:c.682C>A | ENSP00000490273.1:p.Arg228= | |
| ENST00000638429.1:c.682C>A | ENSP00000492290.1:p.Arg228= | |
| ENST00000372037.7:c.682C>A | ENSP00000361107.1:p.Arg228= | |
| NM_004329.2:c.682C>A , LRG_298t1:c.682C>A | NP_004320.2:p.Arg228= | |
| XM_011540103.1:c.682C>A | XP_011538405.1:p.Arg228= | |
| XM_011540104.1:c.682C>A | XP_011538406.1:p.Arg228= | |
| XM_011540103.2:c.682C>A | XP_011538405.1:p.Arg228= | |
| XM_011540104.2:c.682C>A | XP_011538406.1:p.Arg228= | |
| NM_004329.3:c.682C>A MANE Select | NP_004320.2:p.Arg228= |