gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00245451 (AFR)
Genomes Max Group AF
0.00238025 (AFR)
Exomes Max Group AF
0.00227218 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114406599C>T , CM000671.2:g.114406599C>T | GRCh38 |
| NC_000009.11:g.117168879C>T , CM000671.1:g.117168879C>T | GRCh37 |
| NC_000009.10:g.116208700C>T | NCBI36 |
| NG_016700.1:g.103858G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699485.1:c.336G>A | ENSP00000514396.1:p.Pro112= | |
| ENST00000362057.4:c.1992G>A MANE Select | ENSP00000354623.3:p.Pro664= | |
| ENST00000674036.8:c.965G>A | ||
| ENST00000674048.1:n.1873G>A | ||
| ENST00000265134.10:c.843G>A | ENSP00000265134.6:p.Pro281= | |
| ENST00000362057.3:c.1992G>A | ENSP00000354623.3:p.Pro664= | |
| ENST00000374059.7:c.939G>A | ENSP00000363172.3:p.Pro313= | |
| NM_001083885.2:c.843G>A | NP_001077354.2:p.Pro281= | |
| NM_001173425.1:c.1992G>A | NP_001166896.1:p.Pro664= | |
| NM_015404.3:c.1992G>A | NP_056219.3:p.Pro664= | |
| XM_005251897.3:c.1329G>A | XP_005251954.2:p.Pro443= | |
| XM_011518484.1:c.2025G>A | XP_011516786.1:p.Pro675= | |
| XM_011518485.1:c.2025G>A | XP_011516787.1:p.Pro675= | |
| XM_011518486.1:c.2025G>A | XP_011516788.1:p.Pro675= | |
| XM_011518487.1:c.1899G>A | XP_011516789.1:p.Pro633= | |
| XM_011518488.1:c.1782G>A | XP_011516790.1:p.Pro594= | |
| XM_011518495.1:c.702G>A | XP_011516797.1:p.Pro234= | |
| XR_929747.1:n.2929G>A | ||
| XR_929748.1:n.2827G>A | ||
| NM_001346890.1:c.939G>A | NP_001333819.1:p.Pro313= | |
| XM_011518486.2:c.2025G>A | XP_011516788.1:p.Pro675= | |
| XM_011518487.2:c.1899G>A | XP_011516789.1:p.Pro633= | |
| XM_011518488.2:c.1782G>A | XP_011516790.1:p.Pro594= | |
| XR_929747.2:n.2240G>A | ||
| XR_929748.2:n.2138G>A | ||
| NM_015404.4:c.1992G>A MANE Select | NP_056219.3:p.Pro664= | |
| NM_001173425.2:c.1992G>A | NP_001166896.1:p.Pro664= | |
| NM_001083885.3:c.843G>A | NP_001077354.2:p.Pro281= |