gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00262549 (NFE)
Genomes Max Group AF
0.003915 (NFE)
Exomes Max Group AF
0.00252553 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.84203123G>A , CM000672.2:g.84203123G>A | GRCh38 |
| NC_000010.10:g.85962879G>A , CM000672.1:g.85962879G>A | GRCh37 |
| NC_000010.9:g.85952859G>A | NCBI36 |
| NG_028034.1:g.13468G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000623527.4:c.783G>A MANE Select | ENSP00000485478.1:p.Pro261= | |
| ENST00000332904.7:c.783G>A | ENSP00000331063.3:p.Pro261= | |
| ENST00000372117.6:c.163G>A | ||
| ENST00000623527.3:c.783G>A | ENSP00000485478.1:p.Pro261= | |
| NM_001171971.2:c.783G>A | NP_001165442.1:p.Pro261= | |
| NM_033100.3:c.783G>A | NP_149091.1:p.Pro261= | |
| XM_011540337.1:c.957G>A | XP_011538639.1:p.Pro319= | |
| XM_011540338.1:c.957G>A | XP_011538640.1:p.Pro319= | |
| XM_011540339.1:c.404G>A | XP_011538641.1:p.Arg135His | |
| XM_011540340.1:c.957G>A | XP_011538642.1:p.Pro319= | |
| XM_011540340.3:c.957G>A | XP_011538642.1:p.Pro319= | |
| NM_033100.4:c.783G>A MANE Select | NP_149091.1:p.Pro261= | |
| NM_001171971.3:c.783G>A | NP_001165442.1:p.Pro261= |