Linked Data
ClinVar Variation Id:
185449
ClinVar RCV Id:
RCV000164877
RCV000230717
RCV000441754
RCV000858816
RCV001155674
RCV003743614
RCV003995372
dbSNP Id:
rs138796072
ExAC:
5:112179220 A / G
gnomAD v2:
5-112179220-A-G
gnomAD v3:
5-112843523-A-G
gnomAD v4:
5-112843523-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112843523A>G , CM000667.2:g.112843523A>G | GRCh38 |
| NC_000005.9:g.112179220A>G , CM000667.1:g.112179220A>G | GRCh37 |
| NC_000005.8:g.112207119A>G | NCBI36 |
| NG_008481.4:g.156003A>G , LRG_130:g.156003A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.7983A>G | ENSP00000473355.2:p.Leu2661= | |
| ENST00000505350.2:c.*7935A>G | ENSP00000481752.1:n.*7935A>G | |
| ENST00000507379.6:c.7875A>G | ENSP00000423224.2:p.Leu2625= | |
| ENST00000509732.6:c.7929A>G | ENSP00000426541.2:p.Leu2643= | |
| ENST00000512211.7:c.7929A>G | ENSP00000423828.3:p.Leu2643= | |
| ENST00000257430.9:c.7929A>G MANE Select | ENSP00000257430.4:p.Leu2643= | |
| ENST00000257430.8:c.7929A>G | ENSP00000257430.4:p.Leu2643= | |
| ENST00000508376.6:c.7929A>G | ENSP00000427089.2:p.Leu2643= | |
| ENST00000520401.1:c.231-13126A>G | ||
| NM_000038.5:c.7929A>G | NP_000029.2:p.Leu2643= | |
| NM_001127510.2:c.7929A>G | NP_001120982.1:p.Leu2643= | |
| NM_001127511.2:c.7875A>G | NP_001120983.2:p.Leu2625= | |
| NM_001354895.1:c.7929A>G | NP_001341824.1:p.Leu2643= | |
| NM_001354896.1:c.7983A>G | NP_001341825.1:p.Leu2661= | |
| NM_001354897.1:c.7959A>G | NP_001341826.1:p.Leu2653= | |
| NM_001354898.1:c.7854A>G | NP_001341827.1:p.Leu2618= | |
| NM_001354899.1:c.7845A>G | NP_001341828.1:p.Leu2615= | |
| NM_001354900.1:c.7806A>G | NP_001341829.1:p.Leu2602= | |
| NM_001354901.1:c.7752A>G | NP_001341830.1:p.Leu2584= | |
| NM_001354902.1:c.7656A>G | NP_001341831.1:p.Leu2552= | |
| NM_001354903.1:c.7626A>G | NP_001341832.1:p.Leu2542= | |
| NM_001354904.1:c.7551A>G | NP_001341833.1:p.Leu2517= | |
| NM_001354905.1:c.7449A>G | NP_001341834.1:p.Leu2483= | |
| NM_001354906.1:c.7080A>G | NP_001341835.1:p.Leu2360= | |
| NM_000038.6:c.7929A>G MANE Select | NP_000029.2:p.Leu2643= | |
| NM_001127510.3:c.7929A>G | NP_001120982.1:p.Leu2643= | |
| NM_001127511.3:c.7875A>G | NP_001120983.2:p.Leu2625= | |
| NM_001354895.2:c.7929A>G | NP_001341824.1:p.Leu2643= | |
| NM_001354896.2:c.7983A>G | NP_001341825.1:p.Leu2661= | |
| NM_001354897.2:c.7959A>G | NP_001341826.1:p.Leu2653= | |
| NM_001354898.2:c.7854A>G | NP_001341827.1:p.Leu2618= | |
| NM_001354899.2:c.7845A>G | NP_001341828.1:p.Leu2615= | |
| NM_001354900.2:c.7806A>G | NP_001341829.1:p.Leu2602= | |
| NM_001354901.2:c.7752A>G | NP_001341830.1:p.Leu2584= | |
| NM_001354902.2:c.7656A>G | NP_001341831.1:p.Leu2552= | |
| NM_001354903.2:c.7626A>G | NP_001341832.1:p.Leu2542= | |
| NM_001354904.2:c.7551A>G | NP_001341833.1:p.Leu2517= | |
| NM_001354905.2:c.7449A>G | NP_001341834.1:p.Leu2483= | |
| NM_001354906.2:c.7080A>G | NP_001341835.1:p.Leu2360= |