Linked Data
ClinVar Variation Id:
139229
dbSNP Id:
rs587781173
gnomAD v2:
2-39213382-T-C
gnomAD v3:
2-38986241-T-C
gnomAD v4:
2-38986241-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38986241T>C , CM000664.2:g.38986241T>C | GRCh38 |
| NC_000002.11:g.39213382T>C , CM000664.1:g.39213382T>C | GRCh37 |
| NC_000002.10:g.39066886T>C | NCBI36 |
| NG_007530.1:g.139223A>G , LRG_754:g.139223A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685279.1:c.2352A>G | ENSP00000509424.1:p.Arg784= | |
| ENST00000686849.1:n.376A>G | ||
| ENST00000690876.1:c.*891A>G | ENSP00000508955.1:n.*891A>G | |
| ENST00000692089.1:c.3399+1232A>G | ENSP00000508626.1:n.3399+1232A>G | |
| ENST00000692227.1:c.1162-878A>G | ENSP00000509138.1:n.1162-878A>G | |
| ENST00000402219.8:c.3585A>G MANE Select | ENSP00000384675.2:p.Arg1195= | |
| ENST00000395038.6:c.3540A>G | ENSP00000378479.2:p.Arg1180= | |
| ENST00000402219.6:c.3585A>G | ENSP00000384675.2:p.Arg1195= | |
| ENST00000426016.5:c.3585A>G | ENSP00000387784.1:p.Arg1195= | |
| ENST00000469581.1:n.328A>G | ||
| NM_005633.3:c.3585A>G , LRG_754t1:c.3585A>G | NP_005624.2:p.Arg1195= | |
| XM_005264515.3:c.3540A>G | XP_005264572.1:p.Arg1180= | |
| XM_011533060.1:c.3678A>G | XP_011531362.1:p.Arg1226= | |
| XM_011533061.1:c.3633A>G | XP_011531363.1:p.Arg1211= | |
| XM_011533062.1:c.3564A>G | XP_011531364.1:p.Arg1188= | |
| XM_011533063.1:c.3561A>G | XP_011531365.1:p.Arg1187= | |
| XM_011533064.1:c.3414A>G | XP_011531366.1:p.Arg1138= | |
| XM_011533065.1:c.3604-878A>G | XP_011531367.1:n.3604-878A>G | |
| XM_011533066.1:c.2520A>G | XP_011531368.1:p.Arg840= | |
| XM_005264515.4:c.3540A>G | XP_005264572.1:p.Arg1180= | |
| XM_011533062.2:c.3564A>G | XP_011531364.1:p.Arg1188= | |
| XM_011533064.2:c.3414A>G | XP_011531366.1:p.Arg1138= | |
| NM_001382394.1:c.3564A>G | NP_001369323.1:p.Arg1188= | |
| NM_001382395.1:c.3540A>G | NP_001369324.1:p.Arg1180= | |
| NM_005633.4:c.3585A>G MANE Select | NP_005624.2:p.Arg1195= |