Linked Data
ClinVar Variation Id:
290751
dbSNP Id:
rs142746069
ExAC:
11:64510322 T / C
gnomAD v2:
11-64510322-T-C
gnomAD v3:
11-64742850-T-C
gnomAD v4:
11-64742850-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64742850T>C , CM000673.2:g.64742850T>C | GRCh38 |
| NC_000011.9:g.64510322T>C , CM000673.1:g.64510322T>C | GRCh37 |
| NC_000011.8:g.64266898T>C | NCBI36 |
| NG_007574.1:g.7607A>G , LRG_100:g.7607A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394432.8:c.17A>G MANE Select | ENSP00000377953.3:p.Asp6Gly | |
| ENST00000354024.7:c.17A>G | ENSP00000338864.3:p.Asp6Gly | |
| ENST00000377485.5:c.17A>G | ENSP00000366705.1:p.Asp6Gly | |
| ENST00000377486.7:c.17A>G | ENSP00000366706.3:p.Asp6Gly | |
| ENST00000377487.5:c.17A>G | ENSP00000366707.1:p.Asp6Gly | |
| ENST00000377489.5:c.17A>G | ENSP00000366709.1:p.Asp6Gly | |
| ENST00000377494.5:c.17A>G | ENSP00000366714.1:p.Asp6Gly | |
| ENST00000377497.7:c.17A>G | ENSP00000366717.3:p.Asp6Gly | |
| ENST00000394428.5:c.17A>G | ENSP00000377949.1:p.Asp6Gly | |
| ENST00000394429.5:c.17A>G | ENSP00000377950.1:p.Asp6Gly | |
| ENST00000394430.5:c.17A>G | ENSP00000377951.1:p.Asp6Gly | |
| ENST00000394432.7:c.17A>G | ENSP00000377953.3:p.Asp6Gly | |
| ENST00000419843.1:c.17A>G | ENSP00000389068.1:p.Asp6Gly | |
| ENST00000421556.5:c.17A>G | ENSP00000401510.1:p.Asp6Gly | |
| ENST00000430645.1:c.17A>G | ENSP00000401314.1:p.Asp6Gly | |
| ENST00000431822.5:c.17A>G | ENSP00000399114.1:p.Asp6Gly | |
| ENST00000441258.5:c.17A>G | ENSP00000399028.1:p.Asp6Gly | |
| ENST00000445445.5:c.17A>G | ENSP00000396029.1:p.Asp6Gly | |
| ENST00000480443.1:n.207A>G | ||
| NM_001098670.1:c.17A>G | NP_001092140.1:p.Asp6Gly | |
| NM_001098671.1:c.17A>G | NP_001092141.1:p.Asp6Gly | |
| NM_153819.1:c.17A>G , LRG_100t1:c.17A>G | NP_722541.1:p.Asp6Gly | |
| XM_005273707.3:c.412A>G | XP_005273764.3:p.Thr138Ala | |
| XM_011544718.1:c.412A>G | XP_011543020.1:p.Thr138Ala | |
| XM_011544719.1:c.412A>G | XP_011543021.1:p.Thr138Ala | |
| XM_011544720.1:c.17A>G | XP_011543022.1:p.Asp6Gly | |
| XM_011544721.1:c.17A>G | XP_011543023.1:p.Asp6Gly | |
| XM_011544722.1:c.17A>G | XP_011543024.1:p.Asp6Gly | |
| XM_011544723.1:c.17A>G | XP_011543025.1:p.Asp6Gly | |
| XM_011544724.1:c.97A>G | XP_011543026.1:p.Thr33Ala | |
| NM_001318398.1:c.-339A>G | NP_001305327.1:n.-339A>G | |
| XM_005273707.4:c.412A>G | XP_005273764.3:p.Thr138Ala | |
| XM_011544718.2:c.412A>G | XP_011543020.1:p.Thr138Ala | |
| XM_011544720.2:c.17A>G | XP_011543022.1:p.Asp6Gly | |
| XM_011544722.2:c.17A>G | XP_011543024.1:p.Asp6Gly | |
| XM_011544723.3:c.17A>G | XP_011543025.1:p.Asp6Gly | |
| XM_017017082.2:c.961A>G | XP_016872571.1:p.Thr321Ala | |
| XM_017017083.2:c.961A>G | XP_016872572.1:p.Thr321Ala | |
| XM_017017084.2:c.17A>G | XP_016872573.1:p.Asp6Gly | |
| XR_001747719.2:n.1849A>G | ||
| XR_001747720.2:n.1849A>G | ||
| NM_001098671.2:c.17A>G MANE Select | NP_001092141.1:p.Asp6Gly | |
| NM_001098670.2:c.17A>G | NP_001092140.1:p.Asp6Gly | |
| NM_001318398.2:c.-339A>G | NP_001305327.1:n.-339A>G |