Linked Data
dbSNP Id:
rs764998593
ExAC:
1:227083165 A / G
gnomAD v2:
1-227083165-A-G
gnomAD v4:
1-226895464-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.226895464A>G , CM000663.2:g.226895464A>G | GRCh38 |
| NC_000001.10:g.227083165A>G , CM000663.1:g.227083165A>G | GRCh37 |
| NC_000001.9:g.225149788A>G | NCBI36 |
| NG_007381.1:g.29893A>G | |
| NG_012825.2:g.2929A>G | |
| NG_007381.2:g.30281A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366779.6:c.1232A>G | ENSP00000355741.2:p.Lys411Arg | |
| ENST00000366782.6:c.1232A>G | ENSP00000355746.2:p.Lys411Arg | |
| ENST00000366783.8:c.1232A>G MANE Select | ENSP00000355747.3:p.Lys411Arg | |
| ENST00000471728.2:n.1870A>G | ||
| ENST00000524196.6:c.1232A>G | ENSP00000429036.2:p.Lys411Arg | |
| ENST00000626989.3:c.1232A>G | ENSP00000486498.2:p.Lys411Arg | |
| ENST00000676467.1:c.*1059A>G | ENSP00000504294.1:n.*1059A>G | |
| ENST00000676747.1:c.1188+1339A>G | ENSP00000503244.1:n.1188+1339A>G | |
| ENST00000676884.1:c.1232A>G | ENSP00000503200.1:p.Lys411Arg | |
| ENST00000676888.1:c.*573A>G | ENSP00000504483.1:n.*573A>G | |
| ENST00000676907.1:c.*811A>G | ENSP00000504410.1:n.*811A>G | |
| ENST00000676945.1:c.1191+1339A>G | ENSP00000504433.1:n.1191+1339A>G | |
| ENST00000677065.1:n.1793A>G | ||
| ENST00000677414.1:c.1232A>G | ENSP00000503116.1:p.Lys411Arg | |
| ENST00000677529.1:n.2962A>G | ||
| ENST00000677596.1:c.*1454A>G | ENSP00000503618.1:n.*1454A>G | |
| ENST00000677599.1:c.1191+1339A>G | ENSP00000503673.1:n.1191+1339A>G | |
| ENST00000677748.1:n.3487A>G | ||
| ENST00000677880.1:c.797A>G | ENSP00000503121.1:p.Lys266Arg | |
| ENST00000678021.1:c.*855A>G | ENSP00000504674.1:n.*855A>G | |
| ENST00000678233.1:c.1232A>G | ENSP00000504728.1:p.Lys411Arg | |
| ENST00000678320.1:c.1133A>G | ENSP00000503680.1:p.Lys378Arg | |
| ENST00000678655.1:c.1092+1339A>G | ENSP00000504230.1:n.1092+1339A>G | |
| ENST00000678706.1:c.*609A>G | ENSP00000503659.1:n.*609A>G | |
| ENST00000678776.1:c.*1369A>G | ENSP00000504624.1:n.*1369A>G | |
| ENST00000678784.1:c.1073-2256A>G | ENSP00000504652.1:n.1073-2256A>G | |
| ENST00000678820.1:c.1089+1339A>G | ENSP00000504138.1:n.1089+1339A>G | |
| ENST00000678835.1:c.*757-2256A>G | ENSP00000504343.1:n.*757-2256A>G | |
| ENST00000679088.1:c.1232A>G | ENSP00000504727.1:p.Lys411Arg | |
| ENST00000679098.1:c.1232A>G | ENSP00000504303.1:p.Lys411Arg | |
| ENST00000366782.5:c.1331A>G | ENSP00000355746.1:p.Lys444Arg | |
| ENST00000366783.7:c.1232A>G | ENSP00000355747.3:p.Lys411Arg | |
| ENST00000422240.6:c.1229A>G | ENSP00000403737.2:p.Lys410Arg | |
| ENST00000471728.1:n.490A>G | ||
| ENST00000472139.2:c.800A>G | ENSP00000427806.1:p.Lys267Arg | |
| ENST00000626989.2:c.1331A>G | ENSP00000486498.1:p.Lys444Arg | |
| NM_000447.2:c.1232A>G | NP_000438.2:p.Lys411Arg | |
| NM_012486.2:c.1229A>G | NP_036618.2:p.Lys410Arg | |
| XM_005273199.2:c.1232A>G | XP_005273256.1:p.Lys411Arg | |
| XM_011544236.1:c.800A>G | XP_011542538.1:p.Lys267Arg | |
| XR_949149.1:n.1966A>G | ||
| XM_005273199.4:c.1232A>G | XP_005273256.1:p.Lys411Arg | |
| XM_017001835.1:c.1232A>G | XP_016857324.1:p.Lys411Arg | |
| XM_017001836.1:c.1229A>G | XP_016857325.1:p.Lys410Arg | |
| XR_001737316.2:n.1478-2256A>G | ||
| XR_001737317.2:n.1478-2256A>G | ||
| XR_001737318.2:n.1947A>G | ||
| XR_001737319.1:n.2290A>G | ||
| XR_001737320.1:n.2287A>G | ||
| XR_001737321.1:n.1782A>G | ||
| XR_949149.2:n.1944A>G | ||
| XR_949150.3:n.2163A>G | ||
| NM_000447.3:c.1232A>G MANE Select | NP_000438.2:p.Lys411Arg | |
| NM_012486.3:c.1229A>G | NP_036618.2:p.Lys410Arg |