Linked Data
ClinVar Variation Id:
136469
dbSNP Id:
rs149036879
ExAC:
17:17942293 C / T
gnomAD v2:
17-17942293-C-T
gnomAD v3:
17-18038979-C-T
gnomAD v4:
17-18038979-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18038979C>T , CM000679.2:g.18038979C>T | GRCh38 |
| NC_000017.10:g.17942293C>T , CM000679.1:g.17942293C>T | GRCh37 |
| NC_000017.9:g.17883018C>T | NCBI36 |
| NG_012824.1:g.5188G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000474627.8:c.35G>A MANE Select | ENSP00000417190.2:p.Gly12Glu | |
| ENST00000444058.1:c.35G>A | ENSP00000397198.1:p.Gly12Glu | |
| ENST00000462733.5:c.35G>A | ENSP00000463920.1:p.Gly12Glu | |
| ENST00000474627.7:c.35G>A | ENSP00000417190.2:p.Gly12Glu | |
| ENST00000497871.1:n.223G>A | ||
| ENST00000577586.5:n.186G>A | ||
| ENST00000584205.5:c.35G>A | ENSP00000462899.1:p.Gly12Glu | |
| ENST00000585101.5:c.35G>A | ENSP00000463861.1:p.Gly12Glu | |
| NM_145691.3:c.35G>A | NP_663729.1:p.Gly12Glu | |
| XM_005256848.2:c.35G>A | XP_005256905.1:p.Gly12Glu | |
| XM_011524062.1:c.35G>A | XP_011522364.1:p.Gly12Glu | |
| XM_011524063.1:c.35G>A | XP_011522365.1:p.Gly12Glu | |
| XM_011524064.1:c.-120G>A | XP_011522366.1:n.-120G>A | |
| XM_011524065.1:c.35G>A | XP_011522367.1:p.Gly12Glu | |
| XR_934116.1:n.191G>A | ||
| XM_005256848.4:c.35G>A | XP_005256905.1:p.Gly12Glu | |
| XM_011524065.2:c.35G>A | XP_011522367.1:p.Gly12Glu | |
| XM_017025302.1:c.-120G>A | XP_016880791.1:n.-120G>A | |
| XM_017025303.1:c.-120G>A | XP_016880792.1:n.-120G>A | |
| XR_001752677.2:n.190G>A | ||
| NM_145691.4:c.35G>A MANE Select | NP_663729.1:p.Gly12Glu |