Linked Data
ClinVar Variation Id:
364743
dbSNP Id:
rs199736016
ExAC:
9:123151547 T / C
gnomAD v2:
9-123151547-T-C
gnomAD v3:
9-120389269-T-C
gnomAD v4:
9-120389269-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120389269T>C , CM000671.2:g.120389269T>C | GRCh38 |
| NC_000009.11:g.123151547T>C , CM000671.1:g.123151547T>C | GRCh37 |
| NC_000009.10:g.122191368T>C | NCBI36 |
| NG_008999.1:g.195891A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360822.8:c.4959A>G | ENSP00000354065.4:p.Pro1653= | |
| ENST00000416449.6:c.5553A>G | ENSP00000400395.2:p.Pro1851= | |
| ENST00000479584.2:n.3896A>G | ||
| ENST00000484546.2:n.3073A>G | ||
| ENST00000684780.1:n.5939A>G | ||
| ENST00000685866.1:c.*3474A>G | ENSP00000509484.1:n.*3474A>G | |
| ENST00000686376.1:c.5492A>G | ENSP00000510021.1:n.5492A>G | |
| ENST00000686842.1:n.9203A>G | ||
| ENST00000687279.1:c.5646A>G | ENSP00000508692.1:p.Pro1882= | |
| ENST00000687311.1:n.5612A>G | ||
| ENST00000687633.1:c.5550A>G | ENSP00000510289.1:p.Pro1850= | |
| ENST00000688512.1:c.1257A>G | ENSP00000508546.1:p.Pro419= | |
| ENST00000688923.1:n.4784A>G | ||
| ENST00000689012.1:n.2037A>G | ||
| ENST00000689688.1:c.*712A>G | ENSP00000510155.1:n.*712A>G | |
| ENST00000690646.1:c.5475A>G | ENSP00000510383.1:p.Pro1825= | |
| ENST00000690814.1:c.*2825A>G | ENSP00000508792.1:n.*2825A>G | |
| ENST00000691504.1:n.6505A>G | ||
| ENST00000691551.1:c.1818A>G | ||
| ENST00000692155.1:c.5492A>G | ENSP00000510290.1:n.5492A>G | |
| ENST00000692746.1:n.5319A>G | ||
| ENST00000693386.1:c.5494A>G | ENSP00000510003.1:n.5494A>G | |
| ENST00000693433.1:n.9405A>G | ||
| ENST00000693714.1:n.10315A>G | ||
| ENST00000693728.1:c.*397A>G | ENSP00000510580.1:n.*397A>G | |
| ENST00000349780.9:c.5649A>G MANE Select | ENSP00000343818.4:p.Pro1883= | |
| ENST00000349780.8:c.5649A>G | ENSP00000343818.4:p.Pro1883= | |
| ENST00000360190.8:c.5412A>G | ENSP00000353317.4:p.Pro1804= | |
| ENST00000360822.7:c.4959A>G | ENSP00000354065.4:p.Pro1653= | |
| ENST00000416449.5:c.3831A>G | ENSP00000400395.1:p.Pro1277= | |
| ENST00000425647.1:c.2679A>G | ENSP00000409941.1:p.Pro893= | |
| ENST00000433194.6:n.745A>G | ||
| ENST00000473282.6:c.*4473A>G | ENSP00000419265.1:n.*4473A>G | |
| ENST00000474262.5:n.476A>G | ||
| ENST00000480112.5:c.*3476A>G | ENSP00000418418.1:n.*3476A>G | |
| ENST00000480467.5:n.861A>G | ||
| ENST00000484546.1:n.1199A>G | ||
| ENST00000495406.1:n.561A>G | ||
| NM_001011649.2:c.5412A>G | NP_001011649.1:p.Pro1804= | |
| NM_001272039.1:c.4959A>G | NP_001258968.1:p.Pro1653= | |
| NM_018249.5:c.5649A>G | NP_060719.4:p.Pro1883= | |
| NR_073554.1:n.5916A>G | ||
| NR_073555.1:n.5839A>G | ||
| NR_073556.1:n.6048A>G | ||
| NR_073557.1:n.5921A>G | ||
| NR_073558.1:n.5918A>G | ||
| XM_006717182.1:c.5553A>G | XP_006717245.1:p.Pro1851= | |
| XM_006717185.1:c.4962A>G | XP_006717248.1:p.Pro1654= | |
| XM_011518860.1:c.5646A>G | XP_011517162.1:p.Pro1882= | |
| XM_011518861.1:c.5646A>G | XP_011517163.1:p.Pro1882= | |
| XM_017014921.1:c.5550A>G | XP_016870410.1:p.Pro1850= | |
| XM_017014922.1:c.4815A>G | XP_016870411.1:p.Pro1605= | |
| XM_017014923.1:c.4725A>G | XP_016870412.1:p.Pro1575= | |
| XM_017014924.1:c.3207A>G | XP_016870413.1:p.Pro1069= | |
| NM_018249.6:c.5649A>G MANE Select | NP_060719.4:p.Pro1883= | |
| NM_001011649.3:c.5412A>G | NP_001011649.1:p.Pro1804= | |
| NR_073554.2:n.5913A>G | ||
| NR_073555.2:n.5836A>G | ||
| NR_073556.2:n.6045A>G | ||
| NR_073557.2:n.5918A>G | ||
| NR_073558.2:n.5915A>G | ||
| NM_001272039.2:c.4959A>G | NP_001258968.1:p.Pro1653= |