Linked Data
ClinVar Variation Id:
312411
dbSNP Id:
rs182350911
ExAC:
13:52593260 T / G
gnomAD v2:
13-52593260-T-G
gnomAD v3:
13-52019124-T-G
gnomAD v4:
13-52019124-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.52019124T>G , CM000675.2:g.52019124T>G | GRCh38 |
| NC_000013.10:g.52593260T>G , CM000675.1:g.52593260T>G | GRCh37 |
| NC_000013.9:g.51491261T>G | NCBI36 |
| NG_028038.1:g.11738T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000521508.2:c.256T>G MANE Select | ENSP00000430236.1:p.Leu86Val | |
| ENST00000649340.2:c.256T>G | ENSP00000497184.2:p.Leu86Val | |
| ENST00000649651.2:n.4560T>G | ||
| ENST00000649708.2:c.256T>G | ENSP00000497459.2:p.Leu86Val | |
| ENST00000650049.2:c.256T>G | ENSP00000497398.2:p.Leu86Val | |
| ENST00000679359.1:c.256T>G | ENSP00000505579.1:p.Leu86Val | |
| ENST00000679495.1:n.44+6662T>G | ||
| ENST00000679544.1:c.256T>G | ENSP00000505560.1:p.Leu86Val | |
| ENST00000680793.1:n.2180T>G | ||
| ENST00000680950.1:n.383T>G | ||
| ENST00000681047.1:c.256T>G | ENSP00000505034.1:p.Leu86Val | |
| ENST00000681053.1:c.45-4882T>G | ENSP00000505307.1:n.45-4882T>G | |
| ENST00000681145.1:c.256T>G | ENSP00000505163.1:p.Leu86Val | |
| ENST00000681226.1:n.376T>G | ||
| ENST00000521508.1:c.256T>G | ENSP00000430236.1:p.Leu86Val | |
| ENST00000523764.1:c.44+6662T>G | ENSP00000429497.1:n.44+6662T>G | |
| NM_001004127.2:c.256T>G | NP_001004127.2:p.Leu86Val | |
| NR_036571.2:n.76+6662T>G | ||
| NM_001004127.3:c.256T>G MANE Select | NP_001004127.2:p.Leu86Val | |
| NR_036571.3:n.65+6662T>G |