Linked Data
ClinVar Variation Id:
39688
dbSNP Id:
rs145415848
gnomAD v2:
15-78403513-C-G
gnomAD v4:
15-78111171-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78111171C>G , CM000677.2:g.78111171C>G | GRCh38 |
| NC_000015.9:g.78403513C>G , CM000677.1:g.78403513C>G | GRCh37 |
| NC_000015.8:g.76190568C>G | NCBI36 |
| NG_033006.1:g.25365G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258930.8:c.192G>C MANE Select | ENSP00000258930.3:p.Glu64Asp | |
| ENST00000643268.1:c.81G>C | ENSP00000494155.1:p.Glu27Asp | |
| ENST00000258930.7:c.192G>C | ENSP00000258930.3:p.Glu64Asp | |
| ENST00000539011.5:c.63G>C | ENSP00000442459.1:p.Glu21Asp | |
| ENST00000557818.1:c.96G>C | ENSP00000453654.1:p.Glu32Asp | |
| ENST00000557846.5:c.52-1789G>C | ENSP00000453488.1:n.52-1789G>C | |
| ENST00000557917.5:c.87-1789G>C | ENSP00000453963.1:n.87-1789G>C | |
| ENST00000559054.1:c.63G>C | ENSP00000453377.1:p.Glu21Asp | |
| ENST00000559645.1:c.87-1662G>C | ENSP00000452980.1:n.87-1662G>C | |
| ENST00000560618.5:c.63G>C | ENSP00000452752.1:p.Glu21Asp | |
| ENST00000561190.5:c.192G>C | ENSP00000453256.1:p.Glu64Asp | |
| NM_001271888.1:c.63G>C | NP_001258817.1:p.Glu21Asp | |
| NM_001271889.1:c.52-1789G>C | NP_001258818.1:n.52-1789G>C | |
| NM_001301224.1:c.87-1662G>C | NP_001288153.1:n.87-1662G>C | |
| NM_006383.3:c.192G>C | NP_006374.1:p.Glu64Asp | |
| NR_125435.1:n.407-1789G>C | ||
| XM_005254126.2:c.192G>C | XP_005254183.1:p.Glu64Asp | |
| XM_006720374.2:c.63G>C | XP_006720437.1:p.Glu21Asp | |
| XM_011521161.1:c.63G>C | XP_011519463.1:p.Glu21Asp | |
| XM_005254126.3:c.192G>C | XP_005254183.1:p.Glu64Asp | |
| XM_011521161.2:c.63G>C | XP_011519463.1:p.Glu21Asp | |
| XR_001751051.1:n.953G>C | ||
| NM_001271888.2:c.63G>C | NP_001258817.1:p.Glu21Asp | |
| NM_001271889.2:c.52-1789G>C | NP_001258818.1:n.52-1789G>C | |
| NM_001301224.2:c.87-1662G>C | NP_001288153.1:n.87-1662G>C | |
| NM_006383.4:c.192G>C MANE Select | NP_006374.1:p.Glu64Asp | |
| NR_125435.2:n.407-1789G>C |