Linked Data
dbSNP Id:
rs771191137
ExAC:
12:49418641 C / G
gnomAD v2:
12-49418641-C-G
gnomAD v4:
12-49024858-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49024858C>G , CM000674.2:g.49024858C>G | GRCh38 |
| NC_000012.11:g.49418641C>G , CM000674.1:g.49418641C>G | GRCh37 |
| NC_000012.10:g.47704908C>G | NCBI36 |
| NG_027827.1:g.35467G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681974.1:n.545G>C | ||
| ENST00000683543.2:c.15873G>C | ENSP00000506726.1:p.Glu5291Asp | |
| ENST00000683863.1:n.1588G>C | ||
| ENST00000684428.1:c.408G>C | ENSP00000507433.1:p.Glu136Asp | |
| ENST00000684755.1:n.408G>C | ||
| ENST00000685024.1:c.998G>C | ||
| ENST00000685166.1:c.15882G>C | ENSP00000509386.1:p.Glu5294Asp | |
| ENST00000688411.1:c.350G>C | ENSP00000510146.1:n.350G>C | |
| ENST00000691463.1:c.1259G>C | ENSP00000510624.1:n.1259G>C | |
| ENST00000692637.1:c.15870G>C | ENSP00000509666.1:p.Glu5290Asp | |
| ENST00000301067.12:c.15873G>C MANE Select | ENSP00000301067.7:p.Glu5291Asp | |
| ENST00000301067.11:c.15873G>C | ENSP00000301067.7:p.Glu5291Asp | |
| NM_003482.3:c.15873G>C | NP_003473.3:p.Glu5291Asp | |
| XM_005269162.3:c.15873G>C | XP_005269219.1:p.Glu5291Asp | |
| XM_006719614.2:c.15882G>C | XP_006719677.1:p.Glu5294Asp | |
| XM_006719616.2:c.15870G>C | XP_006719679.1:p.Glu5290Asp | |
| XM_011538770.1:c.15882G>C | XP_011537072.1:p.Glu5294Asp | |
| XM_011538771.1:c.15879G>C | XP_011537073.1:p.Glu5293Asp | |
| XM_011538772.1:c.15873G>C | XP_011537074.1:p.Glu5291Asp | |
| XM_011538773.1:c.15870G>C | XP_011537075.1:p.Glu5290Asp | |
| XM_011538774.1:c.15861G>C | XP_011537076.1:p.Glu5287Asp | |
| XM_011538775.1:c.15816G>C | XP_011537077.1:p.Glu5272Asp | |
| XM_011538776.1:c.15789G>C | XP_011537078.1:p.Glu5263Asp | |
| XR_944740.1:n.17061G>C | ||
| XM_005269162.4:c.15873G>C | XP_005269219.1:p.Glu5291Asp | |
| XM_006719614.4:c.15882G>C | XP_006719677.1:p.Glu5294Asp | |
| XM_006719616.3:c.15870G>C | XP_006719679.1:p.Glu5290Asp | |
| XM_011538770.2:c.15882G>C | XP_011537072.1:p.Glu5294Asp | |
| XM_011538771.2:c.15879G>C | XP_011537073.1:p.Glu5293Asp | |
| XM_011538772.2:c.15873G>C | XP_011537074.1:p.Glu5291Asp | |
| XM_011538773.2:c.15870G>C | XP_011537075.1:p.Glu5290Asp | |
| XM_011538774.2:c.15861G>C | XP_011537076.1:p.Glu5287Asp | |
| XM_011538776.2:c.15789G>C | XP_011537078.1:p.Glu5263Asp | |
| XR_001748874.1:n.16050G>C | ||
| NM_003482.4:c.15873G>C MANE Select | NP_003473.3:p.Glu5291Asp |