Linked Data
ClinVar Variation Id:
1955174
ClinVar RCV Id:
RCV002715217
dbSNP Id:
rs537606044
ExAC:
20:45355500 T / G
gnomAD v2:
20-45355500-T-G
gnomAD v3:
20-46726861-T-G
gnomAD v4:
20-46726861-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46726861T>G , CM000682.2:g.46726861T>G | GRCh38 |
| NC_000020.10:g.45355500T>G , CM000682.1:g.45355500T>G | GRCh37 |
| NC_000020.9:g.44788907T>G | NCBI36 |
| NG_016284.1:g.22222T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000359271.4:c.1289-3T>G MANE Select | ENSP00000352216.2:n.1289-3T>G | |
| ENST00000359271.3:c.1289-3T>G | ENSP00000352216.2:n.1289-3T>G | |
| NM_030777.3:c.1289-3T>G | NP_110404.1:n.1289-3T>G | |
| XM_011529060.1:c.1352-3T>G | XP_011527362.1:n.1352-3T>G | |
| XM_011529061.1:c.1298-3T>G | XP_011527363.1:n.1298-3T>G | |
| XM_011529062.1:c.1398T>G | XP_011527364.1:p.Pro466= | |
| XM_011529063.1:c.1352-3T>G | XP_011527365.1:n.1352-3T>G | |
| XM_011529064.1:c.1398T>G | XP_011527366.1:p.Pro466= | |
| XM_011529065.1:c.1352-3T>G | XP_011527367.1:n.1352-3T>G | |
| XR_936641.1:n.1534T>G | ||
| XM_011529060.2:c.1352-3T>G | XP_011527362.1:n.1352-3T>G | |
| XM_011529061.2:c.1298-3T>G | XP_011527363.1:n.1298-3T>G | |
| XM_011529062.2:c.1398T>G | XP_011527364.1:p.Pro466= | |
| XM_011529063.2:c.1352-3T>G | XP_011527365.1:n.1352-3T>G | |
| XM_011529064.2:c.1398T>G | XP_011527366.1:p.Pro466= | |
| XM_011529065.2:c.1352-3T>G | XP_011527367.1:n.1352-3T>G | |
| XM_017028087.2:c.1289-3T>G | XP_016883576.1:n.1289-3T>G | |
| XR_936641.2:n.1521T>G | ||
| NM_030777.4:c.1289-3T>G MANE Select | NP_110404.1:n.1289-3T>G |