Linked Data
ClinVar Variation Id:
142442
dbSNP Id:
rs138137162
ExAC:
5:112179077 T / G
gnomAD v2:
5-112179077-T-G
gnomAD v3:
5-112843380-T-G
gnomAD v4:
5-112843380-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112843380T>G , CM000667.2:g.112843380T>G | GRCh38 |
| NC_000005.9:g.112179077T>G , CM000667.1:g.112179077T>G | GRCh37 |
| NC_000005.8:g.112206976T>G | NCBI36 |
| NG_008481.4:g.155860T>G , LRG_130:g.155860T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.7840T>G | ENSP00000473355.2:p.Ser2614Ala | |
| ENST00000505350.2:c.*7792T>G | ENSP00000481752.1:n.*7792T>G | |
| ENST00000507379.6:c.7732T>G | ENSP00000423224.2:p.Ser2578Ala | |
| ENST00000509732.6:c.7786T>G | ENSP00000426541.2:p.Ser2596Ala | |
| ENST00000512211.7:c.7786T>G | ENSP00000423828.3:p.Ser2596Ala | |
| ENST00000257430.9:c.7786T>G MANE Select | ENSP00000257430.4:p.Ser2596Ala | |
| ENST00000257430.8:c.7786T>G | ENSP00000257430.4:p.Ser2596Ala | |
| ENST00000508376.6:c.7786T>G | ENSP00000427089.2:p.Ser2596Ala | |
| ENST00000520401.1:c.231-13269T>G | ||
| NM_000038.5:c.7786T>G | NP_000029.2:p.Ser2596Ala | |
| NM_001127510.2:c.7786T>G | NP_001120982.1:p.Ser2596Ala | |
| NM_001127511.2:c.7732T>G | NP_001120983.2:p.Ser2578Ala | |
| NM_001354895.1:c.7786T>G | NP_001341824.1:p.Ser2596Ala | |
| NM_001354896.1:c.7840T>G | NP_001341825.1:p.Ser2614Ala | |
| NM_001354897.1:c.7816T>G | NP_001341826.1:p.Ser2606Ala | |
| NM_001354898.1:c.7711T>G | NP_001341827.1:p.Ser2571Ala | |
| NM_001354899.1:c.7702T>G | NP_001341828.1:p.Ser2568Ala | |
| NM_001354900.1:c.7663T>G | NP_001341829.1:p.Ser2555Ala | |
| NM_001354901.1:c.7609T>G | NP_001341830.1:p.Ser2537Ala | |
| NM_001354902.1:c.7513T>G | NP_001341831.1:p.Ser2505Ala | |
| NM_001354903.1:c.7483T>G | NP_001341832.1:p.Ser2495Ala | |
| NM_001354904.1:c.7408T>G | NP_001341833.1:p.Ser2470Ala | |
| NM_001354905.1:c.7306T>G | NP_001341834.1:p.Ser2436Ala | |
| NM_001354906.1:c.6937T>G | NP_001341835.1:p.Ser2313Ala | |
| NM_000038.6:c.7786T>G MANE Select | NP_000029.2:p.Ser2596Ala | |
| NM_001127510.3:c.7786T>G | NP_001120982.1:p.Ser2596Ala | |
| NM_001127511.3:c.7732T>G | NP_001120983.2:p.Ser2578Ala | |
| NM_001354895.2:c.7786T>G | NP_001341824.1:p.Ser2596Ala | |
| NM_001354896.2:c.7840T>G | NP_001341825.1:p.Ser2614Ala | |
| NM_001354897.2:c.7816T>G | NP_001341826.1:p.Ser2606Ala | |
| NM_001354898.2:c.7711T>G | NP_001341827.1:p.Ser2571Ala | |
| NM_001354899.2:c.7702T>G | NP_001341828.1:p.Ser2568Ala | |
| NM_001354900.2:c.7663T>G | NP_001341829.1:p.Ser2555Ala | |
| NM_001354901.2:c.7609T>G | NP_001341830.1:p.Ser2537Ala | |
| NM_001354902.2:c.7513T>G | NP_001341831.1:p.Ser2505Ala | |
| NM_001354903.2:c.7483T>G | NP_001341832.1:p.Ser2495Ala | |
| NM_001354904.2:c.7408T>G | NP_001341833.1:p.Ser2470Ala | |
| NM_001354905.2:c.7306T>G | NP_001341834.1:p.Ser2436Ala | |
| NM_001354906.2:c.6937T>G | NP_001341835.1:p.Ser2313Ala |