Linked Data
ClinVar Variation Id:
217614
dbSNP Id:
rs778858648
ExAC:
4:15601255 T / G
gnomAD v2:
4-15601255-T-G
gnomAD v3:
4-15599632-T-G
gnomAD v4:
4-15599632-T-G
PubMed:
PMID:26092869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.15599632T>G , CM000666.2:g.15599632T>G | GRCh38 |
| NC_000004.11:g.15601255T>G , CM000666.1:g.15601255T>G | GRCh37 |
| NC_000004.10:g.15210353T>G | NCBI36 |
| NG_013035.1:g.134767T>G , LRG_697:g.134767T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389652.11:c.4636T>G | ENSP00000374303.8:p.Leu1546Val | |
| ENST00000424120.6:c.4600T>G MANE Select | ENSP00000403465.1:p.Leu1534Val | |
| ENST00000503292.6:c.4600T>G | ENSP00000421809.1:p.Leu1534Val | |
| ENST00000506643.5:c.4453T>G | ENSP00000422931.2:p.Leu1485Val | |
| ENST00000514039.6:c.706T>G | ENSP00000488534.2:p.Leu236Val | |
| ENST00000634028.2:c.4394T>G | ENSP00000488669.2:n.4394T>G | |
| ENST00000650860.2:c.*2097T>G | ENSP00000498775.1:n.*2097T>G | |
| ENST00000674945.1:c.4276T>G | ENSP00000502333.1:p.Leu1426Val | |
| ENST00000680586.1:n.5259T>G | ||
| ENST00000389652.9:c.4098T>G | ||
| ENST00000424120.5:c.4600T>G | ENSP00000403465.1:p.Leu1534Val | |
| ENST00000503292.5:c.4600T>G | ENSP00000421809.1:p.Leu1534Val | |
| ENST00000506643.4:c.2869T>G | ||
| ENST00000514039.5:c.216T>G | ||
| ENST00000634028.1:c.4406T>G | ENSP00000488669.1:n.4406T>G | |
| NM_001080522.2:c.4600T>G , LRG_697t1:c.4600T>G | NP_001073991.2:p.Leu1534Val | |
| XM_005248177.1:c.4600T>G | XP_005248234.1:p.Leu1534Val | |
| XM_011513869.1:c.4618T>G | XP_011512171.1:p.Leu1540Val | |
| XM_011513870.1:c.4618T>G | XP_011512172.1:p.Leu1540Val | |
| XM_011513871.1:c.4471T>G | XP_011512173.1:p.Leu1491Val | |
| XM_017008482.1:c.4453T>G | XP_016863971.1:p.Leu1485Val | |
| NM_001378615.1:c.4600T>G MANE Select | NP_001365544.1:p.Leu1534Val | |
| NM_001378617.1:c.4453T>G | NP_001365546.1:p.Leu1485Val |