Linked Data
ClinVar Variation Id:
181545
dbSNP Id:
rs730881036
gnomAD v2:
2-39213011-A-C
gnomAD v3:
2-38985870-A-C
gnomAD v4:
2-38985870-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38985870A>C , CM000664.2:g.38985870A>C | GRCh38 |
| NC_000002.11:g.39213011A>C , CM000664.1:g.39213011A>C | GRCh37 |
| NC_000002.10:g.39066515A>C | NCBI36 |
| NG_007530.1:g.139594T>G , LRG_754:g.139594T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685279.1:c.2723T>G | ENSP00000509424.1:p.Met908Arg | |
| ENST00000686849.1:n.747T>G | ||
| ENST00000690876.1:c.*1262T>G | ENSP00000508955.1:n.*1262T>G | |
| ENST00000692089.1:c.3399+1603T>G | ENSP00000508626.1:n.3399+1603T>G | |
| ENST00000692227.1:c.1162-507T>G | ENSP00000509138.1:n.1162-507T>G | |
| ENST00000402219.8:c.3956T>G MANE Select | ENSP00000384675.2:p.Met1319Arg | |
| ENST00000395038.6:c.3911T>G | ENSP00000378479.2:p.Met1304Arg | |
| ENST00000402219.6:c.3956T>G | ENSP00000384675.2:p.Met1319Arg | |
| ENST00000426016.5:c.3956T>G | ENSP00000387784.1:p.Met1319Arg | |
| NM_005633.3:c.3956T>G , LRG_754t1:c.3956T>G | NP_005624.2:p.Met1319Arg | |
| XM_005264515.3:c.3911T>G | XP_005264572.1:p.Met1304Arg | |
| XM_011533060.1:c.4049T>G | XP_011531362.1:p.Met1350Arg | |
| XM_011533061.1:c.4004T>G | XP_011531363.1:p.Met1335Arg | |
| XM_011533062.1:c.3935T>G | XP_011531364.1:p.Met1312Arg | |
| XM_011533063.1:c.3932T>G | XP_011531365.1:p.Met1311Arg | |
| XM_011533064.1:c.3785T>G | XP_011531366.1:p.Met1262Arg | |
| XM_011533065.1:c.3604-507T>G | XP_011531367.1:n.3604-507T>G | |
| XM_011533066.1:c.2891T>G | XP_011531368.1:p.Met964Arg | |
| XM_005264515.4:c.3911T>G | XP_005264572.1:p.Met1304Arg | |
| XM_011533062.2:c.3935T>G | XP_011531364.1:p.Met1312Arg | |
| XM_011533064.2:c.3785T>G | XP_011531366.1:p.Met1262Arg | |
| NM_001382394.1:c.3935T>G | NP_001369323.1:p.Met1312Arg | |
| NM_001382395.1:c.3911T>G | NP_001369324.1:p.Met1304Arg | |
| NM_005633.4:c.3956T>G MANE Select | NP_005624.2:p.Met1319Arg |