Linked Data
ClinVar Variation Id:
1054188
dbSNP Id:
rs748036782
ExAC:
8:61773532 C / T
gnomAD v2:
8-61773532-C-T
gnomAD v4:
8-60860973-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60860973C>T , CM000670.2:g.60860973C>T | GRCh38 |
| NC_000008.10:g.61773532C>T , CM000670.1:g.61773532C>T | GRCh37 |
| NC_000008.9:g.61936086C>T | NCBI36 |
| NG_007009.1:g.187194C>T , LRG_176:g.187194C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695850.1:n.854C>T | ||
| ENST00000695851.1:n.58C>T | ||
| ENST00000695853.1:c.*737C>T | ENSP00000512218.1:n.*737C>T | |
| ENST00000423902.7:c.7678C>T MANE Select | ENSP00000392028.1:p.Pro2560Ser | |
| ENST00000423902.6:c.7678C>T | ENSP00000392028.1:p.Pro2560Ser | |
| ENST00000524602.5:c.1717-1256C>T | ENSP00000437061.1:n.1717-1256C>T | |
| ENST00000531695.1:n.102C>T | ||
| ENST00000618450.1:n.70C>T | ||
| NM_001316690.1:c.1717-1256C>T | NP_001303619.1:n.1717-1256C>T | |
| NM_017780.3:c.7678C>T | NP_060250.2:p.Pro2560Ser | |
| XM_011517553.1:c.7768C>T | XP_011515855.1:p.Pro2590Ser | |
| XM_011517554.1:c.7768C>T | XP_011515856.1:p.Pro2590Ser | |
| XM_011517555.1:c.7765C>T | XP_011515857.1:p.Pro2589Ser | |
| XM_011517556.1:c.7699-1223C>T | XP_011515858.1:n.7699-1223C>T | |
| XM_011517557.1:c.5755C>T | XP_011515859.1:p.Pro1919Ser | |
| XM_011517558.1:c.5305C>T | XP_011515860.1:p.Pro1769Ser | |
| XM_011517559.1:c.4513C>T | XP_011515861.1:p.Pro1505Ser | |
| XM_011517553.2:c.7768C>T | XP_011515855.1:p.Pro2590Ser | |
| XM_011517554.3:c.7768C>T | XP_011515856.1:p.Pro2590Ser | |
| XM_011517555.2:c.7765C>T | XP_011515857.1:p.Pro2589Ser | |
| XM_017013612.1:c.7768C>T | XP_016869101.1:p.Pro2590Ser | |
| XM_017013613.1:c.7675C>T | XP_016869102.1:p.Pro2559Ser | |
| NM_017780.4:c.7678C>T MANE Select | NP_060250.2:p.Pro2560Ser |