Linked Data
ClinVar Variation Id:
128254
dbSNP Id:
rs10966
ExAC:
20:25282944 A / G
gnomAD v2:
20-25282944-A-G
gnomAD v3:
20-25302308-A-G
gnomAD v4:
20-25302308-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.25302308A>G , CM000682.2:g.25302308A>G | GRCh38 |
| NC_000020.10:g.25282944A>G , CM000682.1:g.25282944A>G | GRCh37 |
| NC_000020.9:g.25230944A>G | NCBI36 |
| NG_028119.1:g.93675T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339157.10:c.1068T>C MANE Select | ENSP00000341408.5:p.Asp356= | |
| ENST00000376542.8:c.1068T>C | ENSP00000365725.3:p.Asp356= | |
| ENST00000465694.2:c.522T>C | ENSP00000459278.2:p.Asp174= | |
| ENST00000671784.1:c.443T>C | ENSP00000500451.1:p.Ile148Thr | |
| ENST00000671858.1:c.522T>C | ENSP00000500550.1:p.Asp174= | |
| ENST00000672114.1:c.483+1242T>C | ENSP00000499945.1:n.483+1242T>C | |
| ENST00000672258.1:c.484-32T>C | ENSP00000499868.1:n.484-32T>C | |
| ENST00000672331.1:c.439T>C | ENSP00000500286.1:n.439T>C | |
| ENST00000672358.1:c.522T>C | ENSP00000500062.1:p.Asp174= | |
| ENST00000672406.1:c.*407T>C | ENSP00000500208.1:n.*407T>C | |
| ENST00000672566.1:c.597T>C | ENSP00000500106.1:p.Asp199= | |
| ENST00000672596.1:c.522T>C | ENSP00000500290.1:p.Asp174= | |
| ENST00000672871.1:c.404+4525T>C | ENSP00000499949.1:n.404+4525T>C | |
| ENST00000673121.1:c.624T>C | ENSP00000499839.1:p.Asp208= | |
| ENST00000673227.1:c.522T>C | ENSP00000500514.1:p.Asp174= | |
| ENST00000673524.1:c.630T>C | ||
| ENST00000339157.9:c.1068T>C | ENSP00000341408.5:p.Asp356= | |
| ENST00000376542.7:c.1068T>C | ENSP00000365725.3:p.Asp356= | |
| NM_001042472.2:c.1068T>C | NP_001035937.1:p.Asp356= | |
| NM_015600.4:c.1068T>C | NP_056415.1:p.Asp356= | |
| XM_005260699.3:c.1029+1242T>C | XP_005260756.1:n.1029+1242T>C | |
| XM_011529214.1:c.1068T>C | XP_011527516.1:p.Asp356= | |
| XM_011529214.2:c.1068T>C | XP_011527516.1:p.Asp356= | |
| XM_017027796.1:c.597T>C | XP_016883285.1:p.Asp199= | |
| XR_002958465.1:n.2281T>C | ||
| XR_002958466.1:n.2401T>C | ||
| XR_002958467.1:n.1960T>C | ||
| NM_001042472.3:c.1068T>C MANE Select | NP_001035937.1:p.Asp356= | |
| NM_015600.5:c.1068T>C | NP_056415.1:p.Asp356= |