gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0002411 (EAS)
Genomes Max Group AF
0.00003763 (NFE)
Exomes Max Group AF
0.00027309 (EAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34250671C>T , CM000677.2:g.34250671C>T | GRCh38 |
| NC_000015.9:g.34542872C>T , CM000677.1:g.34542872C>T | GRCh37 |
| NC_000015.8:g.32330164C>T | NCBI36 |
| NG_007951.1:g.92394G>A , LRG_270:g.92394G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354181.8:c.1551G>A MANE Select | ENSP00000346112.3:p.Pro517= | |
| ENST00000675289.1:n.2333G>A | ||
| ENST00000676379.1:c.1551G>A | ENSP00000502539.1:p.Pro517= | |
| ENST00000290209.9:c.1398G>A | ENSP00000290209.5:p.Pro466= | |
| ENST00000354181.7:c.1551G>A | ENSP00000346112.3:p.Pro517= | |
| ENST00000397702.6:c.1374G>A | ENSP00000380814.2:p.Pro458= | |
| ENST00000397707.6:c.1506G>A | ENSP00000380819.2:p.Pro502= | |
| ENST00000458406.6:c.1374G>A | ENSP00000387725.2:p.Pro458= | |
| ENST00000558589.5:c.1524G>A | ENSP00000452776.1:p.Pro508= | |
| ENST00000558667.5:c.1551G>A | ENSP00000453473.1:p.Pro517= | |
| ENST00000559523.5:c.1374G>A | ENSP00000452904.1:p.Pro458= | |
| ENST00000559664.5:c.1551G>A | ENSP00000453702.1:p.Pro517= | |
| ENST00000560164.5:c.987G>A | ENSP00000452705.1:p.Pro329= | |
| ENST00000560611.5:c.1551G>A | ENSP00000454168.1:p.Pro517= | |
| ENST00000561080.5:c.1551G>A | ENSP00000454069.1:p.Pro517= | |
| NM_001042494.1:c.1374G>A | NP_001035959.1:p.Pro458= | |
| NM_001042495.1:c.1374G>A | NP_001035960.1:p.Pro458= | |
| NM_001042496.1:c.1524G>A | NP_001035961.1:p.Pro508= | |
| NM_001042497.1:c.1506G>A | NP_001035962.1:p.Pro502= | |
| NM_005135.2:c.1398G>A , LRG_270t1:c.1398G>A | NP_005126.1:p.Pro466= | |
| NM_133647.1:c.1551G>A , LRG_270t2:c.1551G>A | NP_598408.1:p.Pro517= | |
| XM_006720793.2:c.1404G>A | XP_006720856.1:p.Pro468= | |
| XM_011522267.1:c.1551G>A | XP_011520569.1:p.Pro517= | |
| XM_011522268.1:c.1551G>A | XP_011520570.1:p.Pro517= | |
| XM_011522269.1:c.1551G>A | XP_011520571.1:p.Pro517= | |
| XR_429476.2:n.1557G>A | ||
| XR_931960.1:n.1557G>A | ||
| XR_931961.1:n.1557G>A | ||
| NM_001365088.1:c.1551G>A MANE Select | NP_001352017.1:p.Pro517= | |
| XM_006720793.4:c.1404G>A | XP_006720856.1:p.Pro468= | |
| XM_011522269.3:c.1551G>A | XP_011520571.1:p.Pro517= | |
| XR_931960.3:n.2801G>A | ||
| NM_001042494.2:c.1374G>A | NP_001035959.1:p.Pro458= | |
| NM_001042495.2:c.1374G>A | NP_001035960.1:p.Pro458= | |
| NM_001042496.2:c.1524G>A | NP_001035961.1:p.Pro508= | |
| NM_001042497.2:c.1506G>A | NP_001035962.1:p.Pro502= | |
| NM_133647.2:c.1551G>A | NP_598408.1:p.Pro517= |