Linked Data
ClinVar Variation Id:
184596
dbSNP Id:
rs769558291
ExAC:
5:112176507 A / G
gnomAD v2:
5-112176507-A-G
gnomAD v3:
5-112840810-A-G
gnomAD v4:
5-112840810-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112840810A>G , CM000667.2:g.112840810A>G | GRCh38 |
| NC_000005.9:g.112176507A>G , CM000667.1:g.112176507A>G | GRCh37 |
| NC_000005.8:g.112204406A>G | NCBI36 |
| NG_008481.4:g.153290A>G , LRG_130:g.153290A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.5270A>G | ENSP00000473355.2:p.Lys1757Arg | |
| ENST00000505350.2:c.*5222A>G | ENSP00000481752.1:n.*5222A>G | |
| ENST00000507379.6:c.5162A>G | ENSP00000423224.2:p.Lys1721Arg | |
| ENST00000509732.6:c.5216A>G | ENSP00000426541.2:p.Lys1739Arg | |
| ENST00000512211.7:c.5216A>G | ENSP00000423828.3:p.Lys1739Arg | |
| ENST00000257430.9:c.5216A>G MANE Select | ENSP00000257430.4:p.Lys1739Arg | |
| ENST00000257430.8:c.5216A>G | ENSP00000257430.4:p.Lys1739Arg | |
| ENST00000508376.6:c.5216A>G | ENSP00000427089.2:p.Lys1739Arg | |
| ENST00000508624.5:c.*4538A>G | ENSP00000424265.1:n.*4538A>G | |
| ENST00000520401.1:c.230+11838A>G | ||
| NM_000038.5:c.5216A>G | NP_000029.2:p.Lys1739Arg | |
| NM_001127510.2:c.5216A>G | NP_001120982.1:p.Lys1739Arg | |
| NM_001127511.2:c.5162A>G | NP_001120983.2:p.Lys1721Arg | |
| NM_001354895.1:c.5216A>G | NP_001341824.1:p.Lys1739Arg | |
| NM_001354896.1:c.5270A>G | NP_001341825.1:p.Lys1757Arg | |
| NM_001354897.1:c.5246A>G | NP_001341826.1:p.Lys1749Arg | |
| NM_001354898.1:c.5141A>G | NP_001341827.1:p.Lys1714Arg | |
| NM_001354899.1:c.5132A>G | NP_001341828.1:p.Lys1711Arg | |
| NM_001354900.1:c.5093A>G | NP_001341829.1:p.Lys1698Arg | |
| NM_001354901.1:c.5039A>G | NP_001341830.1:p.Lys1680Arg | |
| NM_001354902.1:c.4943A>G | NP_001341831.1:p.Lys1648Arg | |
| NM_001354903.1:c.4913A>G | NP_001341832.1:p.Lys1638Arg | |
| NM_001354904.1:c.4838A>G | NP_001341833.1:p.Lys1613Arg | |
| NM_001354905.1:c.4736A>G | NP_001341834.1:p.Lys1579Arg | |
| NM_001354906.1:c.4367A>G | NP_001341835.1:p.Lys1456Arg | |
| NM_000038.6:c.5216A>G MANE Select | NP_000029.2:p.Lys1739Arg | |
| NM_001127510.3:c.5216A>G | NP_001120982.1:p.Lys1739Arg | |
| NM_001127511.3:c.5162A>G | NP_001120983.2:p.Lys1721Arg | |
| NM_001354895.2:c.5216A>G | NP_001341824.1:p.Lys1739Arg | |
| NM_001354896.2:c.5270A>G | NP_001341825.1:p.Lys1757Arg | |
| NM_001354897.2:c.5246A>G | NP_001341826.1:p.Lys1749Arg | |
| NM_001354898.2:c.5141A>G | NP_001341827.1:p.Lys1714Arg | |
| NM_001354899.2:c.5132A>G | NP_001341828.1:p.Lys1711Arg | |
| NM_001354900.2:c.5093A>G | NP_001341829.1:p.Lys1698Arg | |
| NM_001354901.2:c.5039A>G | NP_001341830.1:p.Lys1680Arg | |
| NM_001354902.2:c.4943A>G | NP_001341831.1:p.Lys1648Arg | |
| NM_001354903.2:c.4913A>G | NP_001341832.1:p.Lys1638Arg | |
| NM_001354904.2:c.4838A>G | NP_001341833.1:p.Lys1613Arg | |
| NM_001354905.2:c.4736A>G | NP_001341834.1:p.Lys1579Arg | |
| NM_001354906.2:c.4367A>G | NP_001341835.1:p.Lys1456Arg |