ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001071 (AFR)
Exomes Max Group AF
0.00001003 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.92606672A>G , CM000672.2:g.92606672A>G | GRCh38 |
| NC_000010.10:g.94366429A>G , CM000672.1:g.94366429A>G | GRCh37 |
| NC_000010.9:g.94356409A>G | NCBI36 |
| NG_032580.1:g.18605A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260731.5:c.264A>G MANE Select | ENSP00000260731.3:p.Pro88= | |
| ENST00000676621.1:c.264A>G | ENSP00000503639.1:p.Pro88= | |
| ENST00000676647.1:c.57A>G | ENSP00000503394.1:p.Pro19= | |
| ENST00000676757.1:c.57A>G | ENSP00000504289.1:p.Pro19= | |
| ENST00000677720.1:c.264A>G | ENSP00000504840.1:p.Pro88= | |
| ENST00000260731.4:c.264A>G | ENSP00000260731.3:p.Pro88= | |
| NM_004523.3:c.264A>G | NP_004514.2:p.Pro88= | |
| NM_004523.4:c.264A>G MANE Select | NP_004514.2:p.Pro88= |