ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0001452 (NFE)
Genomes Max Group AF
0.00007909 (NFE)
Exomes Max Group AF
0.00014592 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.164846646T>C , CM000663.2:g.164846646T>C | GRCh38 |
| NC_000001.10:g.164815883T>C , CM000663.1:g.164815883T>C | GRCh37 |
| NC_000001.9:g.163082507T>C | NCBI36 |
| NG_028246.1:g.292287T>C | |
| NG_028246.2:g.292287T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000540236.4:c.948T>C | ENSP00000439943.3:p.Pro316= | |
| ENST00000699845.1:c.1087+25020T>C | ENSP00000514643.1:n.1087+25020T>C | |
| ENST00000699846.1:c.948T>C | ENSP00000514644.1:p.Pro316= | |
| ENST00000699847.1:c.948T>C | ENSP00000514645.1:p.Pro316= | |
| ENST00000699848.1:c.758+25020T>C | ||
| ENST00000420696.7:c.1263T>C MANE Select | ENSP00000405890.2:p.Pro421= | |
| ENST00000367897.5:c.1150T>C | ENSP00000356872.1:n.1150T>C | |
| ENST00000420696.6:c.1263T>C | ENSP00000405890.1:p.Pro421= | |
| ENST00000465089.2:n.7610T>C | ||
| ENST00000468104.5:n.1393T>C | ||
| ENST00000496120.6:n.1083T>C | ||
| ENST00000540236.3:c.999T>C | ENSP00000439943.2:p.Pro333= | |
| ENST00000558796.2:n.257+15163T>C | ||
| ENST00000559240.5:c.990T>C | ENSP00000453188.1:p.Pro330= | |
| ENST00000560469.5:n.1219T>C | ||
| ENST00000560641.5:c.948T>C | ENSP00000452727.1:p.Pro316= | |
| ENST00000612123.3:c.*106T>C | ENSP00000483563.1:n.*106T>C | |
| ENST00000627490.2:c.1201-2694T>C | ENSP00000485692.1:n.1201-2694T>C | |
| NM_001204961.1:c.*106T>C | NP_001191890.1:n.*106T>C | |
| NM_001204963.1:c.1201-2694T>C | NP_001191892.1:n.1201-2694T>C | |
| NM_002585.3:c.1263T>C | NP_002576.1:p.Pro421= | |
| XM_005245228.2:c.1431T>C | XP_005245285.1:p.Pro477= | |
| XM_005245229.2:c.1263T>C | XP_005245286.1:p.Pro421= | |
| XM_005245230.2:c.948T>C | XP_005245287.1:p.Pro316= | |
| XM_006711347.2:c.1014T>C | XP_006711410.2:p.Pro338= | |
| XM_011509590.1:c.1368+25020T>C | XP_011507892.1:n.1368+25020T>C | |
| XM_011509591.1:c.*106T>C | XP_011507893.1:n.*106T>C | |
| XM_011509592.1:c.*43+25020T>C | XP_011507894.1:n.*43+25020T>C | |
| XM_011509593.1:c.1083T>C | XP_011507895.1:p.Pro361= | |
| XM_011509594.1:c.948T>C | XP_011507896.1:p.Pro316= | |
| XM_011509595.1:c.948T>C | XP_011507897.1:p.Pro316= | |
| NM_001353130.1:c.1014T>C | NP_001340059.1:p.Pro338= | |
| NM_001353131.1:c.*43+25020T>C | NP_001340060.1:n.*43+25020T>C | |
| XM_005245228.3:c.1431T>C | XP_005245285.1:p.Pro477= | |
| XM_005245229.3:c.1263T>C | XP_005245286.1:p.Pro421= | |
| XM_011509590.2:c.1368+25020T>C | XP_011507892.1:n.1368+25020T>C | |
| XM_011509591.2:c.*106T>C | XP_011507893.1:n.*106T>C | |
| XM_011509592.2:c.*43+25020T>C | XP_011507894.1:n.*43+25020T>C | |
| XM_017001395.2:c.1200+25020T>C | XP_016856884.1:n.1200+25020T>C | |
| NM_002585.4:c.1263T>C MANE Select | NP_002576.1:p.Pro421= | |
| NM_001204961.2:c.*106T>C | NP_001191890.1:n.*106T>C | |
| NM_001204963.2:c.1201-2694T>C | NP_001191892.1:n.1201-2694T>C | |
| NM_001353131.2:c.*43+25020T>C | NP_001340060.1:n.*43+25020T>C |