Linked Data
ClinVar Variation Id:
529135
dbSNP Id:
rs776711005
ExAC:
8:61773527 C / T
gnomAD v2:
8-61773527-C-T
gnomAD v3:
8-60860968-C-T
gnomAD v4:
8-60860968-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60860968C>T , CM000670.2:g.60860968C>T | GRCh38 |
| NC_000008.10:g.61773527C>T , CM000670.1:g.61773527C>T | GRCh37 |
| NC_000008.9:g.61936081C>T | NCBI36 |
| NG_007009.1:g.187189C>T , LRG_176:g.187189C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695850.1:n.849C>T | ||
| ENST00000695851.1:n.53C>T | ||
| ENST00000695853.1:c.*732C>T | ENSP00000512218.1:n.*732C>T | |
| ENST00000423902.7:c.7673C>T MANE Select | ENSP00000392028.1:p.Pro2558Leu | |
| ENST00000423902.6:c.7673C>T | ENSP00000392028.1:p.Pro2558Leu | |
| ENST00000524602.5:c.1717-1261C>T | ENSP00000437061.1:n.1717-1261C>T | |
| ENST00000531695.1:n.97C>T | ||
| ENST00000618450.1:n.65C>T | ||
| NM_001316690.1:c.1717-1261C>T | NP_001303619.1:n.1717-1261C>T | |
| NM_017780.3:c.7673C>T | NP_060250.2:p.Pro2558Leu | |
| XM_011517553.1:c.7763C>T | XP_011515855.1:p.Pro2588Leu | |
| XM_011517554.1:c.7763C>T | XP_011515856.1:p.Pro2588Leu | |
| XM_011517555.1:c.7760C>T | XP_011515857.1:p.Pro2587Leu | |
| XM_011517556.1:c.7699-1228C>T | XP_011515858.1:n.7699-1228C>T | |
| XM_011517557.1:c.5750C>T | XP_011515859.1:p.Pro1917Leu | |
| XM_011517558.1:c.5300C>T | XP_011515860.1:p.Pro1767Leu | |
| XM_011517559.1:c.4508C>T | XP_011515861.1:p.Pro1503Leu | |
| XM_011517553.2:c.7763C>T | XP_011515855.1:p.Pro2588Leu | |
| XM_011517554.3:c.7763C>T | XP_011515856.1:p.Pro2588Leu | |
| XM_011517555.2:c.7760C>T | XP_011515857.1:p.Pro2587Leu | |
| XM_017013612.1:c.7763C>T | XP_016869101.1:p.Pro2588Leu | |
| XM_017013613.1:c.7670C>T | XP_016869102.1:p.Pro2557Leu | |
| NM_017780.4:c.7673C>T MANE Select | NP_060250.2:p.Pro2558Leu |