Linked Data
ClinVar Variation Id:
371818
dbSNP Id:
rs1057517549
gnomAD v2:
5-112178256-A-G
gnomAD v3:
5-112842559-A-G
gnomAD v4:
5-112842559-A-G
PubMed:
PMID:22799487
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112842559A>G , CM000667.2:g.112842559A>G | GRCh38 |
| NC_000005.9:g.112178256A>G , CM000667.1:g.112178256A>G | GRCh37 |
| NC_000005.8:g.112206155A>G | NCBI36 |
| NG_008481.4:g.155039A>G , LRG_130:g.155039A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.7019A>G | ENSP00000473355.2:p.Gln2340Arg | |
| ENST00000505350.2:c.*6971A>G | ENSP00000481752.1:n.*6971A>G | |
| ENST00000507379.6:c.6911A>G | ENSP00000423224.2:p.Gln2304Arg | |
| ENST00000509732.6:c.6965A>G | ENSP00000426541.2:p.Gln2322Arg | |
| ENST00000512211.7:c.6965A>G | ENSP00000423828.3:p.Gln2322Arg | |
| ENST00000257430.9:c.6965A>G MANE Select | ENSP00000257430.4:p.Gln2322Arg | |
| ENST00000257430.8:c.6965A>G | ENSP00000257430.4:p.Gln2322Arg | |
| ENST00000508376.6:c.6965A>G | ENSP00000427089.2:p.Gln2322Arg | |
| ENST00000508624.5:c.*6287A>G | ENSP00000424265.1:n.*6287A>G | |
| ENST00000520401.1:c.230+13587A>G | ||
| NM_000038.5:c.6965A>G | NP_000029.2:p.Gln2322Arg | |
| NM_001127510.2:c.6965A>G | NP_001120982.1:p.Gln2322Arg | |
| NM_001127511.2:c.6911A>G | NP_001120983.2:p.Gln2304Arg | |
| NM_001354895.1:c.6965A>G | NP_001341824.1:p.Gln2322Arg | |
| NM_001354896.1:c.7019A>G | NP_001341825.1:p.Gln2340Arg | |
| NM_001354897.1:c.6995A>G | NP_001341826.1:p.Gln2332Arg | |
| NM_001354898.1:c.6890A>G | NP_001341827.1:p.Gln2297Arg | |
| NM_001354899.1:c.6881A>G | NP_001341828.1:p.Gln2294Arg | |
| NM_001354900.1:c.6842A>G | NP_001341829.1:p.Gln2281Arg | |
| NM_001354901.1:c.6788A>G | NP_001341830.1:p.Gln2263Arg | |
| NM_001354902.1:c.6692A>G | NP_001341831.1:p.Gln2231Arg | |
| NM_001354903.1:c.6662A>G | NP_001341832.1:p.Gln2221Arg | |
| NM_001354904.1:c.6587A>G | NP_001341833.1:p.Gln2196Arg | |
| NM_001354905.1:c.6485A>G | NP_001341834.1:p.Gln2162Arg | |
| NM_001354906.1:c.6116A>G | NP_001341835.1:p.Gln2039Arg | |
| NM_000038.6:c.6965A>G MANE Select | NP_000029.2:p.Gln2322Arg | |
| NM_001127510.3:c.6965A>G | NP_001120982.1:p.Gln2322Arg | |
| NM_001127511.3:c.6911A>G | NP_001120983.2:p.Gln2304Arg | |
| NM_001354895.2:c.6965A>G | NP_001341824.1:p.Gln2322Arg | |
| NM_001354896.2:c.7019A>G | NP_001341825.1:p.Gln2340Arg | |
| NM_001354897.2:c.6995A>G | NP_001341826.1:p.Gln2332Arg | |
| NM_001354898.2:c.6890A>G | NP_001341827.1:p.Gln2297Arg | |
| NM_001354899.2:c.6881A>G | NP_001341828.1:p.Gln2294Arg | |
| NM_001354900.2:c.6842A>G | NP_001341829.1:p.Gln2281Arg | |
| NM_001354901.2:c.6788A>G | NP_001341830.1:p.Gln2263Arg | |
| NM_001354902.2:c.6692A>G | NP_001341831.1:p.Gln2231Arg | |
| NM_001354903.2:c.6662A>G | NP_001341832.1:p.Gln2221Arg | |
| NM_001354904.2:c.6587A>G | NP_001341833.1:p.Gln2196Arg | |
| NM_001354905.2:c.6485A>G | NP_001341834.1:p.Gln2162Arg | |
| NM_001354906.2:c.6116A>G | NP_001341835.1:p.Gln2039Arg |