Linked Data
ClinVar Variation Id:
45364
dbSNP Id:
rs201085754
ExAC:
2:39284003 A / C
gnomAD v2:
2-39284003-A-C
gnomAD v3:
2-39056862-A-C
gnomAD v4:
2-39056862-A-C
ERepo:
CA136140/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39056862A>C , CM000664.2:g.39056862A>C | GRCh38 |
| NC_000002.11:g.39284003A>C , CM000664.1:g.39284003A>C | GRCh37 |
| NC_000002.10:g.39137507A>C | NCBI36 |
| NG_007530.1:g.68602T>G , LRG_754:g.68602T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461545.2:n.377T>G | ||
| ENST00000685782.1:n.1188T>G | ||
| ENST00000688189.1:n.115T>G | ||
| ENST00000689668.1:n.357T>G | ||
| ENST00000690679.1:c.450T>G | ||
| ENST00000690876.1:c.350T>G | ENSP00000508955.1:p.Val117Gly | |
| ENST00000691229.1:c.350T>G | ENSP00000510437.1:p.Val117Gly | |
| ENST00000692089.1:c.350T>G | ENSP00000508626.1:p.Val117Gly | |
| ENST00000402219.8:c.350T>G MANE Select | ENSP00000384675.2:p.Val117Gly | |
| ENST00000395038.6:c.350T>G | ENSP00000378479.2:p.Val117Gly | |
| ENST00000402219.6:c.350T>G | ENSP00000384675.2:p.Val117Gly | |
| ENST00000426016.5:c.350T>G | ENSP00000387784.1:p.Val117Gly | |
| ENST00000451331.1:c.179T>G | ENSP00000393899.1:p.Val60Gly | |
| NM_005633.3:c.350T>G , LRG_754t1:c.350T>G | NP_005624.2:p.Val117Gly | |
| XM_005264515.3:c.350T>G | XP_005264572.1:p.Val117Gly | |
| XM_011533060.1:c.443T>G | XP_011531362.1:p.Val148Gly | |
| XM_011533061.1:c.443T>G | XP_011531363.1:p.Val148Gly | |
| XM_011533062.1:c.329T>G | XP_011531364.1:p.Val110Gly | |
| XM_011533063.1:c.326T>G | XP_011531365.1:p.Val109Gly | |
| XM_011533064.1:c.179T>G | XP_011531366.1:p.Val60Gly | |
| XM_011533065.1:c.443T>G | XP_011531367.1:p.Val148Gly | |
| XM_005264515.4:c.350T>G | XP_005264572.1:p.Val117Gly | |
| XM_011533062.2:c.329T>G | XP_011531364.1:p.Val110Gly | |
| XM_011533064.2:c.179T>G | XP_011531366.1:p.Val60Gly | |
| NM_001382394.1:c.329T>G | NP_001369323.1:p.Val110Gly | |
| NM_001382395.1:c.350T>G | NP_001369324.1:p.Val117Gly | |
| NM_005633.4:c.350T>G MANE Select | NP_005624.2:p.Val117Gly |