Linked Data
ClinVar Variation Id:
286727
dbSNP Id:
rs886043464
gnomAD v2:
18-2778168-A-G
gnomAD v3:
18-2778170-A-G
gnomAD v4:
18-2778170-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.2778170A>G , CM000680.2:g.2778170A>G | GRCh38 |
| NC_000018.9:g.2778168A>G , CM000680.1:g.2778168A>G | GRCh37 |
| NC_000018.8:g.2768168A>G | NCBI36 |
| NG_031972.1:g.127283A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685656.1:n.1854+2246A>G | ||
| ENST00000686763.1:c.*1037A>G | ENSP00000510263.1:n.*1037A>G | |
| ENST00000686864.1:c.2238+255A>G | ||
| ENST00000688342.1:c.5346A>G | ENSP00000508422.1:p.Val1782= | |
| ENST00000688708.1:n.4207A>G | ||
| ENST00000688964.1:n.1987A>G | ||
| ENST00000689034.1:n.3425A>G | ||
| ENST00000693213.1:n.4676A>G | ||
| ENST00000693522.1:n.2272A>G | ||
| ENST00000320876.11:c.5478A>G MANE Select | ENSP00000326603.7:p.Val1826= | |
| ENST00000642953.1:c.380A>G | ||
| ENST00000645355.1:c.1523A>G | ||
| ENST00000320876.10:c.5478A>G | ENSP00000326603.6:p.Val1826= | |
| ENST00000577880.5:c.3891A>G | ENSP00000463049.1:p.Val1297= | |
| ENST00000584897.5:c.3296+255A>G | ||
| NM_015295.2:c.5478A>G | NP_056110.2:p.Val1826= | |
| XM_011525642.1:c.5478A>G | XP_011523944.1:p.Val1826= | |
| XM_011525643.1:c.5478A>G | XP_011523945.1:p.Val1826= | |
| XM_011525644.1:c.5094A>G | XP_011523946.1:p.Val1698= | |
| XM_011525645.1:c.4914A>G | XP_011523947.1:p.Val1638= | |
| XR_430039.1:n.5665+255A>G | ||
| XR_935054.1:n.5476A>G | ||
| XR_935055.1:n.5474+255A>G | ||
| XM_011525643.2:c.5478A>G | XP_011523945.1:p.Val1826= | |
| XM_017025684.1:c.4914A>G | XP_016881173.1:p.Val1638= | |
| XR_001753172.1:n.5667A>G | ||
| XR_001753173.1:n.5667A>G | ||
| XR_001753174.1:n.5665+255A>G | ||
| XR_001753175.1:n.5665+255A>G | ||
| XR_001753176.1:n.5476A>G | ||
| XR_001753177.1:n.5579A>G | ||
| XR_001753178.1:n.5585+255A>G | ||
| XR_935055.2:n.5474+255A>G | ||
| NM_015295.3:c.5478A>G MANE Select | NP_056110.2:p.Val1826= |