Linked Data
ClinVar Variation Id:
1761662
ClinVar RCV Id:
RCV002419235
MyVariant Identifiers:
chr5:g.112179307A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112843610A>C , CM000667.2:g.112843610A>C | GRCh38 |
| NC_000005.9:g.112179307A>C , CM000667.1:g.112179307A>C | GRCh37 |
| NC_000005.8:g.112207206A>C | NCBI36 |
| NG_008481.4:g.156090A>C , LRG_130:g.156090A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.8070A>C | ENSP00000473355.2:p.Gly2690= | |
| ENST00000505350.2:c.*8022A>C | ENSP00000481752.1:n.*8022A>C | |
| ENST00000507379.6:c.7962A>C | ENSP00000423224.2:p.Gly2654= | |
| ENST00000509732.6:c.8016A>C | ENSP00000426541.2:p.Gly2672= | |
| ENST00000512211.7:c.8016A>C | ENSP00000423828.3:p.Gly2672= | |
| ENST00000257430.9:c.8016A>C MANE Select | ENSP00000257430.4:p.Gly2672= | |
| ENST00000257430.8:c.8016A>C | ENSP00000257430.4:p.Gly2672= | |
| ENST00000508376.6:c.8016A>C | ENSP00000427089.2:p.Gly2672= | |
| ENST00000520401.1:c.231-13039A>C | ||
| NM_000038.5:c.8016A>C | NP_000029.2:p.Gly2672= | |
| NM_001127510.2:c.8016A>C | NP_001120982.1:p.Gly2672= | |
| NM_001127511.2:c.7962A>C | NP_001120983.2:p.Gly2654= | |
| NM_001354895.1:c.8016A>C | NP_001341824.1:p.Gly2672= | |
| NM_001354896.1:c.8070A>C | NP_001341825.1:p.Gly2690= | |
| NM_001354897.1:c.8046A>C | NP_001341826.1:p.Gly2682= | |
| NM_001354898.1:c.7941A>C | NP_001341827.1:p.Gly2647= | |
| NM_001354899.1:c.7932A>C | NP_001341828.1:p.Gly2644= | |
| NM_001354900.1:c.7893A>C | NP_001341829.1:p.Gly2631= | |
| NM_001354901.1:c.7839A>C | NP_001341830.1:p.Gly2613= | |
| NM_001354902.1:c.7743A>C | NP_001341831.1:p.Gly2581= | |
| NM_001354903.1:c.7713A>C | NP_001341832.1:p.Gly2571= | |
| NM_001354904.1:c.7638A>C | NP_001341833.1:p.Gly2546= | |
| NM_001354905.1:c.7536A>C | NP_001341834.1:p.Gly2512= | |
| NM_001354906.1:c.7167A>C | NP_001341835.1:p.Gly2389= | |
| NM_000038.6:c.8016A>C MANE Select | NP_000029.2:p.Gly2672= | |
| NM_001127510.3:c.8016A>C | NP_001120982.1:p.Gly2672= | |
| NM_001127511.3:c.7962A>C | NP_001120983.2:p.Gly2654= | |
| NM_001354895.2:c.8016A>C | NP_001341824.1:p.Gly2672= | |
| NM_001354896.2:c.8070A>C | NP_001341825.1:p.Gly2690= | |
| NM_001354897.2:c.8046A>C | NP_001341826.1:p.Gly2682= | |
| NM_001354898.2:c.7941A>C | NP_001341827.1:p.Gly2647= | |
| NM_001354899.2:c.7932A>C | NP_001341828.1:p.Gly2644= | |
| NM_001354900.2:c.7893A>C | NP_001341829.1:p.Gly2631= | |
| NM_001354901.2:c.7839A>C | NP_001341830.1:p.Gly2613= | |
| NM_001354902.2:c.7743A>C | NP_001341831.1:p.Gly2581= | |
| NM_001354903.2:c.7713A>C | NP_001341832.1:p.Gly2571= | |
| NM_001354904.2:c.7638A>C | NP_001341833.1:p.Gly2546= | |
| NM_001354905.2:c.7536A>C | NP_001341834.1:p.Gly2512= | |
| NM_001354906.2:c.7167A>C | NP_001341835.1:p.Gly2389= |