Linked Data
ClinVar Variation Id:
40708
dbSNP Id:
rs149092581
ExAC:
2:39233584 C / T
gnomAD v2:
2-39233584-C-T
gnomAD v3:
2-39006443-C-T
gnomAD v4:
2-39006443-C-T
ERepo:
CA136108/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39006443C>T , CM000664.2:g.39006443C>T | GRCh38 |
| NC_000002.11:g.39233584C>T , CM000664.1:g.39233584C>T | GRCh37 |
| NC_000002.10:g.39087088C>T | NCBI36 |
| NG_007530.1:g.119021G>A , LRG_754:g.119021G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685279.1:c.1527G>A | ENSP00000509424.1:p.Arg509= | |
| ENST00000689668.1:n.2767G>A | ||
| ENST00000690876.1:c.2649G>A | ENSP00000508955.1:p.Arg883= | |
| ENST00000691229.1:c.2529G>A | ENSP00000510437.1:p.Arg843= | |
| ENST00000692089.1:c.2649G>A | ENSP00000508626.1:p.Arg883= | |
| ENST00000692227.1:c.456G>A | ENSP00000509138.1:p.Arg152= | |
| ENST00000692620.1:c.*347G>A | ENSP00000509311.1:n.*347G>A | |
| ENST00000402219.8:c.2760G>A MANE Select | ENSP00000384675.2:p.Arg920= | |
| ENST00000395038.6:c.2760G>A | ENSP00000378479.2:p.Arg920= | |
| ENST00000402219.6:c.2760G>A | ENSP00000384675.2:p.Arg920= | |
| ENST00000426016.5:c.2760G>A | ENSP00000387784.1:p.Arg920= | |
| ENST00000474390.1:n.556G>A | ||
| NM_005633.3:c.2760G>A , LRG_754t1:c.2760G>A | NP_005624.2:p.Arg920= | |
| XM_005264515.3:c.2760G>A | XP_005264572.1:p.Arg920= | |
| XM_011533060.1:c.2853G>A | XP_011531362.1:p.Arg951= | |
| XM_011533061.1:c.2853G>A | XP_011531363.1:p.Arg951= | |
| XM_011533062.1:c.2739G>A | XP_011531364.1:p.Arg913= | |
| XM_011533063.1:c.2736G>A | XP_011531365.1:p.Arg912= | |
| XM_011533064.1:c.2589G>A | XP_011531366.1:p.Arg863= | |
| XM_011533065.1:c.2853G>A | XP_011531367.1:p.Arg951= | |
| XM_011533066.1:c.1695G>A | XP_011531368.1:p.Arg565= | |
| XM_005264515.4:c.2760G>A | XP_005264572.1:p.Arg920= | |
| XM_011533062.2:c.2739G>A | XP_011531364.1:p.Arg913= | |
| XM_011533064.2:c.2589G>A | XP_011531366.1:p.Arg863= | |
| NM_001382394.1:c.2739G>A | NP_001369323.1:p.Arg913= | |
| NM_001382395.1:c.2760G>A | NP_001369324.1:p.Arg920= | |
| NM_005633.4:c.2760G>A MANE Select | NP_005624.2:p.Arg920= |