Linked Data
ClinVar Variation Id:
158168
dbSNP Id:
rs2297457
ExAC:
9:123152099 C / G
gnomAD v2:
9-123152099-C-G
gnomAD v3:
9-120389821-C-G
gnomAD v4:
9-120389821-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120389821C>G , CM000671.2:g.120389821C>G | GRCh38 |
| NC_000009.11:g.123152099C>G , CM000671.1:g.123152099C>G | GRCh37 |
| NC_000009.10:g.122191920C>G | NCBI36 |
| NG_008999.1:g.195339G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360822.8:c.4889-34G>C | ENSP00000354065.4:n.4889-34G>C | |
| ENST00000416449.6:c.5483-34G>C | ENSP00000400395.2:n.5483-34G>C | |
| ENST00000479584.2:n.3826-34G>C | ||
| ENST00000484546.2:n.3003-34G>C | ||
| ENST00000684780.1:n.5869-34G>C | ||
| ENST00000685866.1:c.*3404-34G>C | ENSP00000509484.1:n.*3404-34G>C | |
| ENST00000686376.1:c.5422-34G>C | ENSP00000510021.1:n.5422-34G>C | |
| ENST00000686842.1:n.9133-34G>C | ||
| ENST00000687279.1:c.5576-34G>C | ENSP00000508692.1:n.5576-34G>C | |
| ENST00000687311.1:n.5542-34G>C | ||
| ENST00000687633.1:c.5480-34G>C | ENSP00000510289.1:n.5480-34G>C | |
| ENST00000688512.1:c.1187-34G>C | ENSP00000508546.1:n.1187-34G>C | |
| ENST00000688923.1:n.4714-34G>C | ||
| ENST00000689012.1:n.1967-34G>C | ||
| ENST00000689688.1:c.*642-34G>C | ENSP00000510155.1:n.*642-34G>C | |
| ENST00000690646.1:c.5405-34G>C | ENSP00000510383.1:n.5405-34G>C | |
| ENST00000690814.1:c.*2755-34G>C | ENSP00000508792.1:n.*2755-34G>C | |
| ENST00000691504.1:n.6435-34G>C | ||
| ENST00000691551.1:c.1748-34G>C | ||
| ENST00000692155.1:c.5422-34G>C | ENSP00000510290.1:n.5422-34G>C | |
| ENST00000692746.1:n.5249-34G>C | ||
| ENST00000693386.1:c.5424-34G>C | ENSP00000510003.1:n.5424-34G>C | |
| ENST00000693433.1:n.9335-34G>C | ||
| ENST00000693714.1:n.10216G>C | ||
| ENST00000693728.1:c.5483-34G>C | ENSP00000510580.1:n.5483-34G>C | |
| ENST00000349780.9:c.5579-34G>C MANE Select | ENSP00000343818.4:n.5579-34G>C | |
| ENST00000349780.8:c.5579-34G>C | ENSP00000343818.4:n.5579-34G>C | |
| ENST00000360190.8:c.5342-34G>C | ENSP00000353317.4:n.5342-34G>C | |
| ENST00000360822.7:c.4889-34G>C | ENSP00000354065.4:n.4889-34G>C | |
| ENST00000416449.5:c.3761-34G>C | ENSP00000400395.1:n.3761-34G>C | |
| ENST00000425647.1:c.2609-34G>C | ENSP00000409941.1:n.2609-34G>C | |
| ENST00000433194.6:n.675-34G>C | ||
| ENST00000473282.6:c.*4403-34G>C | ENSP00000419265.1:n.*4403-34G>C | |
| ENST00000474262.5:n.406-34G>C | ||
| ENST00000480112.5:c.*3406-34G>C | ENSP00000418418.1:n.*3406-34G>C | |
| ENST00000480467.5:n.791-34G>C | ||
| ENST00000484546.1:n.1129-34G>C | ||
| ENST00000495406.1:n.457G>C | ||
| NM_001011649.2:c.5342-34G>C | NP_001011649.1:n.5342-34G>C | |
| NM_001272039.1:c.4889-34G>C | NP_001258968.1:n.4889-34G>C | |
| NM_018249.5:c.5579-34G>C | NP_060719.4:n.5579-34G>C | |
| NR_073554.1:n.5846-34G>C | ||
| NR_073555.1:n.5769-34G>C | ||
| NR_073556.1:n.5978-34G>C | ||
| NR_073557.1:n.5851-34G>C | ||
| NR_073558.1:n.5848-34G>C | ||
| XM_006717182.1:c.5483-34G>C | XP_006717245.1:n.5483-34G>C | |
| XM_006717185.1:c.4892-34G>C | XP_006717248.1:n.4892-34G>C | |
| XM_011518860.1:c.5576-34G>C | XP_011517162.1:n.5576-34G>C | |
| XM_011518861.1:c.5576-34G>C | XP_011517163.1:n.5576-34G>C | |
| XM_017014921.1:c.5480-34G>C | XP_016870410.1:n.5480-34G>C | |
| XM_017014922.1:c.4745-34G>C | XP_016870411.1:n.4745-34G>C | |
| XM_017014923.1:c.4655-34G>C | XP_016870412.1:n.4655-34G>C | |
| XM_017014924.1:c.3137-34G>C | XP_016870413.1:n.3137-34G>C | |
| NM_018249.6:c.5579-34G>C MANE Select | NP_060719.4:n.5579-34G>C | |
| NM_001011649.3:c.5342-34G>C | NP_001011649.1:n.5342-34G>C | |
| NR_073554.2:n.5843-34G>C | ||
| NR_073555.2:n.5766-34G>C | ||
| NR_073556.2:n.5975-34G>C | ||
| NR_073557.2:n.5848-34G>C | ||
| NR_073558.2:n.5845-34G>C | ||
| NM_001272039.2:c.4889-34G>C | NP_001258968.1:n.4889-34G>C |