Linked Data
ClinVar Variation Id:
517801
ClinVar RCV Id:
RCV000599920
dbSNP Id:
rs1554727598
gnomAD v3:
9-120400880-T-C
gnomAD v4:
9-120400880-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120400880T>C , CM000671.2:g.120400880T>C | GRCh38 |
| NC_000009.11:g.123163158T>C , CM000671.1:g.123163158T>C | GRCh37 |
| NC_000009.10:g.122202979T>C | NCBI36 |
| NG_008999.1:g.184280A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360822.8:c.4623A>G | ENSP00000354065.4:p.Pro1541= | |
| ENST00000416449.6:c.5217A>G | ENSP00000400395.2:p.Pro1739= | |
| ENST00000479584.2:n.3560A>G | ||
| ENST00000684780.1:n.5603A>G | ||
| ENST00000685866.1:c.*3138A>G | ENSP00000509484.1:n.*3138A>G | |
| ENST00000686376.1:c.5156A>G | ENSP00000510021.1:n.5156A>G | |
| ENST00000686842.1:n.8867A>G | ||
| ENST00000687279.1:c.5310A>G | ENSP00000508692.1:p.Pro1770= | |
| ENST00000687311.1:n.5276A>G | ||
| ENST00000687633.1:c.5214A>G | ENSP00000510289.1:p.Pro1738= | |
| ENST00000688512.1:c.921A>G | ENSP00000508546.1:p.Pro307= | |
| ENST00000688923.1:n.4448A>G | ||
| ENST00000689012.1:n.1701A>G | ||
| ENST00000689688.1:c.*376A>G | ENSP00000510155.1:n.*376A>G | |
| ENST00000690646.1:c.5139A>G | ENSP00000510383.1:p.Pro1713= | |
| ENST00000690814.1:c.*2489A>G | ENSP00000508792.1:n.*2489A>G | |
| ENST00000691504.1:n.6169A>G | ||
| ENST00000691551.1:c.1482A>G | ||
| ENST00000692155.1:c.5156A>G | ENSP00000510290.1:n.5156A>G | |
| ENST00000692746.1:n.4983A>G | ||
| ENST00000693386.1:c.5158A>G | ENSP00000510003.1:n.5158A>G | |
| ENST00000693433.1:n.9069A>G | ||
| ENST00000693714.1:n.5260A>G | ||
| ENST00000693728.1:c.5217A>G | ENSP00000510580.1:p.Pro1739= | |
| ENST00000349780.9:c.5313A>G MANE Select | ENSP00000343818.4:p.Pro1771= | |
| ENST00000349780.8:c.5313A>G | ENSP00000343818.4:p.Pro1771= | |
| ENST00000360190.8:c.5076A>G | ENSP00000353317.4:p.Pro1692= | |
| ENST00000360822.7:c.4623A>G | ENSP00000354065.4:p.Pro1541= | |
| ENST00000416449.5:c.3495A>G | ENSP00000400395.1:p.Pro1165= | |
| ENST00000425647.1:c.2343A>G | ENSP00000409941.1:p.Pro781= | |
| ENST00000433194.6:n.409A>G | ||
| ENST00000473282.6:c.*4137A>G | ENSP00000419265.1:n.*4137A>G | |
| ENST00000474262.5:n.140A>G | ||
| ENST00000480112.5:c.*3140A>G | ENSP00000418418.1:n.*3140A>G | |
| ENST00000480467.5:n.525A>G | ||
| ENST00000484546.1:n.863A>G | ||
| NM_001011649.2:c.5076A>G | NP_001011649.1:p.Pro1692= | |
| NM_001272039.1:c.4623A>G | NP_001258968.1:p.Pro1541= | |
| NM_018249.5:c.5313A>G | NP_060719.4:p.Pro1771= | |
| NR_073554.1:n.5580A>G | ||
| NR_073555.1:n.5503A>G | ||
| NR_073556.1:n.5712A>G | ||
| NR_073557.1:n.5585A>G | ||
| NR_073558.1:n.5582A>G | ||
| XM_006717182.1:c.5217A>G | XP_006717245.1:p.Pro1739= | |
| XM_006717185.1:c.4626A>G | XP_006717248.1:p.Pro1542= | |
| XM_011518860.1:c.5310A>G | XP_011517162.1:p.Pro1770= | |
| XM_011518861.1:c.5310A>G | XP_011517163.1:p.Pro1770= | |
| XM_017014921.1:c.5214A>G | XP_016870410.1:p.Pro1738= | |
| XM_017014922.1:c.4479A>G | XP_016870411.1:p.Pro1493= | |
| XM_017014923.1:c.4389A>G | XP_016870412.1:p.Pro1463= | |
| XM_017014924.1:c.2871A>G | XP_016870413.1:p.Pro957= | |
| NM_018249.6:c.5313A>G MANE Select | NP_060719.4:p.Pro1771= | |
| NM_001011649.3:c.5076A>G | NP_001011649.1:p.Pro1692= | |
| NR_073554.2:n.5577A>G | ||
| NR_073555.2:n.5500A>G | ||
| NR_073556.2:n.5709A>G | ||
| NR_073557.2:n.5582A>G | ||
| NR_073558.2:n.5579A>G | ||
| NM_001272039.2:c.4623A>G | NP_001258968.1:p.Pro1541= |