Linked Data
ClinVar Variation Id:
378600
dbSNP Id:
rs199967429
ExAC:
20:45355497 C / T
gnomAD v2:
20-45355497-C-T
gnomAD v3:
20-46726858-C-T
gnomAD v4:
20-46726858-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46726858C>T , CM000682.2:g.46726858C>T | GRCh38 |
| NC_000020.10:g.45355497C>T , CM000682.1:g.45355497C>T | GRCh37 |
| NC_000020.9:g.44788904C>T | NCBI36 |
| NG_016284.1:g.22219C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359271.4:c.1289-6C>T MANE Select | ENSP00000352216.2:n.1289-6C>T | |
| ENST00000359271.3:c.1289-6C>T | ENSP00000352216.2:n.1289-6C>T | |
| NM_030777.3:c.1289-6C>T | NP_110404.1:n.1289-6C>T | |
| XM_011529060.1:c.1352-6C>T | XP_011527362.1:n.1352-6C>T | |
| XM_011529061.1:c.1298-6C>T | XP_011527363.1:n.1298-6C>T | |
| XM_011529062.1:c.1395C>T | XP_011527364.1:p.His465= | |
| XM_011529063.1:c.1352-6C>T | XP_011527365.1:n.1352-6C>T | |
| XM_011529064.1:c.1395C>T | XP_011527366.1:p.His465= | |
| XM_011529065.1:c.1352-6C>T | XP_011527367.1:n.1352-6C>T | |
| XR_936641.1:n.1531C>T | ||
| XM_011529060.2:c.1352-6C>T | XP_011527362.1:n.1352-6C>T | |
| XM_011529061.2:c.1298-6C>T | XP_011527363.1:n.1298-6C>T | |
| XM_011529062.2:c.1395C>T | XP_011527364.1:p.His465= | |
| XM_011529063.2:c.1352-6C>T | XP_011527365.1:n.1352-6C>T | |
| XM_011529064.2:c.1395C>T | XP_011527366.1:p.His465= | |
| XM_011529065.2:c.1352-6C>T | XP_011527367.1:n.1352-6C>T | |
| XM_017028087.2:c.1289-6C>T | XP_016883576.1:n.1289-6C>T | |
| XR_936641.2:n.1518C>T | ||
| NM_030777.4:c.1289-6C>T MANE Select | NP_110404.1:n.1289-6C>T |