Linked Data
ClinVar Variation Id:
214133
dbSNP Id:
rs34607655
ExAC:
17:17924447 T / C
gnomAD v2:
17-17924447-T-C
gnomAD v3:
17-18021133-T-C
gnomAD v4:
17-18021133-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18021133T>C , CM000679.2:g.18021133T>C | GRCh38 |
| NC_000017.10:g.17924447T>C , CM000679.1:g.17924447T>C | GRCh37 |
| NC_000017.9:g.17865172T>C | NCBI36 |
| NG_012824.1:g.23034A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000474627.8:c.722A>G MANE Select | ENSP00000417190.2:p.Glu241Gly | |
| ENST00000462733.5:c.*139A>G | ENSP00000463920.1:n.*139A>G | |
| ENST00000465337.2:n.581A>G | ||
| ENST00000467560.5:n.132A>G | ||
| ENST00000469327.5:n.632A>G | ||
| ENST00000474627.7:c.722A>G | ENSP00000417190.2:p.Glu241Gly | |
| ENST00000488753.1:n.517A>G | ||
| ENST00000496852.5:n.1227A>G | ||
| ENST00000581698.1:c.49-2447A>G | ||
| ENST00000584205.5:c.*33+3491A>G | ENSP00000462899.1:n.*33+3491A>G | |
| ENST00000585101.5:c.*33+3491A>G | ENSP00000463861.1:n.*33+3491A>G | |
| NM_145691.3:c.722A>G | NP_663729.1:p.Glu241Gly | |
| XM_005256848.2:c.722A>G | XP_005256905.1:p.Glu241Gly | |
| XM_011524062.1:c.722A>G | XP_011522364.1:p.Glu241Gly | |
| XM_011524063.1:c.722A>G | XP_011522365.1:p.Glu241Gly | |
| XM_011524064.1:c.422A>G | XP_011522366.1:p.Glu141Gly | |
| XM_011524065.1:c.722A>G | XP_011522367.1:p.Glu241Gly | |
| XM_011524066.1:c.185A>G | XP_011522368.1:p.Glu62Gly | |
| XM_005256848.4:c.722A>G | XP_005256905.1:p.Glu241Gly | |
| XM_011524065.2:c.722A>G | XP_011522367.1:p.Glu241Gly | |
| XM_017025302.1:c.422A>G | XP_016880791.1:p.Glu141Gly | |
| XM_017025303.1:c.422A>G | XP_016880792.1:p.Glu141Gly | |
| XR_001752677.2:n.1119A>G | ||
| NM_145691.4:c.722A>G MANE Select | NP_663729.1:p.Glu241Gly |