Linked Data
ClinVar Variation Id:
243109
dbSNP Id:
rs757901425
ExAC:
5:112179348 T / C
gnomAD v2:
5-112179348-T-C
gnomAD v3:
5-112843651-T-C
gnomAD v4:
5-112843651-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112843651T>C , CM000667.2:g.112843651T>C | GRCh38 |
| NC_000005.9:g.112179348T>C , CM000667.1:g.112179348T>C | GRCh37 |
| NC_000005.8:g.112207247T>C | NCBI36 |
| NG_008481.4:g.156131T>C , LRG_130:g.156131T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.8111T>C | ENSP00000473355.2:p.Val2704Ala | |
| ENST00000505350.2:c.*8063T>C | ENSP00000481752.1:n.*8063T>C | |
| ENST00000507379.6:c.8003T>C | ENSP00000423224.2:p.Val2668Ala | |
| ENST00000509732.6:c.8057T>C | ENSP00000426541.2:p.Val2686Ala | |
| ENST00000512211.7:c.8057T>C | ENSP00000423828.3:p.Val2686Ala | |
| ENST00000257430.9:c.8057T>C MANE Select | ENSP00000257430.4:p.Val2686Ala | |
| ENST00000257430.8:c.8057T>C | ENSP00000257430.4:p.Val2686Ala | |
| ENST00000508376.6:c.8057T>C | ENSP00000427089.2:p.Val2686Ala | |
| ENST00000520401.1:c.231-12998T>C | ||
| NM_000038.5:c.8057T>C | NP_000029.2:p.Val2686Ala | |
| NM_001127510.2:c.8057T>C | NP_001120982.1:p.Val2686Ala | |
| NM_001127511.2:c.8003T>C | NP_001120983.2:p.Val2668Ala | |
| NM_001354895.1:c.8057T>C | NP_001341824.1:p.Val2686Ala | |
| NM_001354896.1:c.8111T>C | NP_001341825.1:p.Val2704Ala | |
| NM_001354897.1:c.8087T>C | NP_001341826.1:p.Val2696Ala | |
| NM_001354898.1:c.7982T>C | NP_001341827.1:p.Val2661Ala | |
| NM_001354899.1:c.7973T>C | NP_001341828.1:p.Val2658Ala | |
| NM_001354900.1:c.7934T>C | NP_001341829.1:p.Val2645Ala | |
| NM_001354901.1:c.7880T>C | NP_001341830.1:p.Val2627Ala | |
| NM_001354902.1:c.7784T>C | NP_001341831.1:p.Val2595Ala | |
| NM_001354903.1:c.7754T>C | NP_001341832.1:p.Val2585Ala | |
| NM_001354904.1:c.7679T>C | NP_001341833.1:p.Val2560Ala | |
| NM_001354905.1:c.7577T>C | NP_001341834.1:p.Val2526Ala | |
| NM_001354906.1:c.7208T>C | NP_001341835.1:p.Val2403Ala | |
| NM_000038.6:c.8057T>C MANE Select | NP_000029.2:p.Val2686Ala | |
| NM_001127510.3:c.8057T>C | NP_001120982.1:p.Val2686Ala | |
| NM_001127511.3:c.8003T>C | NP_001120983.2:p.Val2668Ala | |
| NM_001354895.2:c.8057T>C | NP_001341824.1:p.Val2686Ala | |
| NM_001354896.2:c.8111T>C | NP_001341825.1:p.Val2704Ala | |
| NM_001354897.2:c.8087T>C | NP_001341826.1:p.Val2696Ala | |
| NM_001354898.2:c.7982T>C | NP_001341827.1:p.Val2661Ala | |
| NM_001354899.2:c.7973T>C | NP_001341828.1:p.Val2658Ala | |
| NM_001354900.2:c.7934T>C | NP_001341829.1:p.Val2645Ala | |
| NM_001354901.2:c.7880T>C | NP_001341830.1:p.Val2627Ala | |
| NM_001354902.2:c.7784T>C | NP_001341831.1:p.Val2595Ala | |
| NM_001354903.2:c.7754T>C | NP_001341832.1:p.Val2585Ala | |
| NM_001354904.2:c.7679T>C | NP_001341833.1:p.Val2560Ala | |
| NM_001354905.2:c.7577T>C | NP_001341834.1:p.Val2526Ala | |
| NM_001354906.2:c.7208T>C | NP_001341835.1:p.Val2403Ala |