Linked Data
ClinVar Variation Id:
181829
dbSNP Id:
rs730881270
ExAC:
5:112179398 A / G
gnomAD v2:
5-112179398-A-G
gnomAD v3:
5-112843701-A-G
gnomAD v4:
5-112843701-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112843701A>G , CM000667.2:g.112843701A>G | GRCh38 |
| NC_000005.9:g.112179398A>G , CM000667.1:g.112179398A>G | GRCh37 |
| NC_000005.8:g.112207297A>G | NCBI36 |
| NG_008481.4:g.156181A>G , LRG_130:g.156181A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.8161A>G | ENSP00000473355.2:p.Lys2721Glu | |
| ENST00000505350.2:c.*8113A>G | ENSP00000481752.1:n.*8113A>G | |
| ENST00000507379.6:c.8053A>G | ENSP00000423224.2:p.Lys2685Glu | |
| ENST00000509732.6:c.8107A>G | ENSP00000426541.2:p.Lys2703Glu | |
| ENST00000512211.7:c.8107A>G | ENSP00000423828.3:p.Lys2703Glu | |
| ENST00000257430.9:c.8107A>G MANE Select | ENSP00000257430.4:p.Lys2703Glu | |
| ENST00000257430.8:c.8107A>G | ENSP00000257430.4:p.Lys2703Glu | |
| ENST00000508376.6:c.8107A>G | ENSP00000427089.2:p.Lys2703Glu | |
| ENST00000520401.1:c.231-12948A>G | ||
| NM_000038.5:c.8107A>G | NP_000029.2:p.Lys2703Glu | |
| NM_001127510.2:c.8107A>G | NP_001120982.1:p.Lys2703Glu | |
| NM_001127511.2:c.8053A>G | NP_001120983.2:p.Lys2685Glu | |
| NM_001354895.1:c.8107A>G | NP_001341824.1:p.Lys2703Glu | |
| NM_001354896.1:c.8161A>G | NP_001341825.1:p.Lys2721Glu | |
| NM_001354897.1:c.8137A>G | NP_001341826.1:p.Lys2713Glu | |
| NM_001354898.1:c.8032A>G | NP_001341827.1:p.Lys2678Glu | |
| NM_001354899.1:c.8023A>G | NP_001341828.1:p.Lys2675Glu | |
| NM_001354900.1:c.7984A>G | NP_001341829.1:p.Lys2662Glu | |
| NM_001354901.1:c.7930A>G | NP_001341830.1:p.Lys2644Glu | |
| NM_001354902.1:c.7834A>G | NP_001341831.1:p.Lys2612Glu | |
| NM_001354903.1:c.7804A>G | NP_001341832.1:p.Lys2602Glu | |
| NM_001354904.1:c.7729A>G | NP_001341833.1:p.Lys2577Glu | |
| NM_001354905.1:c.7627A>G | NP_001341834.1:p.Lys2543Glu | |
| NM_001354906.1:c.7258A>G | NP_001341835.1:p.Lys2420Glu | |
| NM_000038.6:c.8107A>G MANE Select | NP_000029.2:p.Lys2703Glu | |
| NM_001127510.3:c.8107A>G | NP_001120982.1:p.Lys2703Glu | |
| NM_001127511.3:c.8053A>G | NP_001120983.2:p.Lys2685Glu | |
| NM_001354895.2:c.8107A>G | NP_001341824.1:p.Lys2703Glu | |
| NM_001354896.2:c.8161A>G | NP_001341825.1:p.Lys2721Glu | |
| NM_001354897.2:c.8137A>G | NP_001341826.1:p.Lys2713Glu | |
| NM_001354898.2:c.8032A>G | NP_001341827.1:p.Lys2678Glu | |
| NM_001354899.2:c.8023A>G | NP_001341828.1:p.Lys2675Glu | |
| NM_001354900.2:c.7984A>G | NP_001341829.1:p.Lys2662Glu | |
| NM_001354901.2:c.7930A>G | NP_001341830.1:p.Lys2644Glu | |
| NM_001354902.2:c.7834A>G | NP_001341831.1:p.Lys2612Glu | |
| NM_001354903.2:c.7804A>G | NP_001341832.1:p.Lys2602Glu | |
| NM_001354904.2:c.7729A>G | NP_001341833.1:p.Lys2577Glu | |
| NM_001354905.2:c.7627A>G | NP_001341834.1:p.Lys2543Glu | |
| NM_001354906.2:c.7258A>G | NP_001341835.1:p.Lys2420Glu |