Linked Data
ClinVar Variation Id:
1505825
ClinVar RCV Id:
RCV002035838
dbSNP Id:
rs1805941132
gnomAD v3:
8-60860950-C-T
gnomAD v4:
8-60860950-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60860950C>T , CM000670.2:g.60860950C>T | GRCh38 |
| NC_000008.10:g.61773509C>T , CM000670.1:g.61773509C>T | GRCh37 |
| NC_000008.9:g.61936063C>T | NCBI36 |
| NG_007009.1:g.187171C>T , LRG_176:g.187171C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695850.1:n.831C>T | ||
| ENST00000695851.1:n.35C>T | ||
| ENST00000695853.1:c.*714C>T | ENSP00000512218.1:n.*714C>T | |
| ENST00000423902.7:c.7655C>T MANE Select | ENSP00000392028.1:p.Pro2552Leu | |
| ENST00000423902.6:c.7655C>T | ENSP00000392028.1:p.Pro2552Leu | |
| ENST00000524602.5:c.1717-1279C>T | ENSP00000437061.1:n.1717-1279C>T | |
| ENST00000531695.1:n.79C>T | ||
| ENST00000618450.1:n.47C>T | ||
| NM_001316690.1:c.1717-1279C>T | NP_001303619.1:n.1717-1279C>T | |
| NM_017780.3:c.7655C>T | NP_060250.2:p.Pro2552Leu | |
| XM_011517553.1:c.7745C>T | XP_011515855.1:p.Pro2582Leu | |
| XM_011517554.1:c.7745C>T | XP_011515856.1:p.Pro2582Leu | |
| XM_011517555.1:c.7742C>T | XP_011515857.1:p.Pro2581Leu | |
| XM_011517556.1:c.7699-1246C>T | XP_011515858.1:n.7699-1246C>T | |
| XM_011517557.1:c.5732C>T | XP_011515859.1:p.Pro1911Leu | |
| XM_011517558.1:c.5282C>T | XP_011515860.1:p.Pro1761Leu | |
| XM_011517559.1:c.4490C>T | XP_011515861.1:p.Pro1497Leu | |
| XM_011517553.2:c.7745C>T | XP_011515855.1:p.Pro2582Leu | |
| XM_011517554.3:c.7745C>T | XP_011515856.1:p.Pro2582Leu | |
| XM_011517555.2:c.7742C>T | XP_011515857.1:p.Pro2581Leu | |
| XM_017013612.1:c.7745C>T | XP_016869101.1:p.Pro2582Leu | |
| XM_017013613.1:c.7652C>T | XP_016869102.1:p.Pro2551Leu | |
| NM_017780.4:c.7655C>T MANE Select | NP_060250.2:p.Pro2552Leu |