Linked Data
ClinVar Variation Id:
378237
dbSNP Id:
rs778364604
ExAC:
8:90960073 T / C
gnomAD v2:
8-90960073-T-C
gnomAD v3:
8-89947845-T-C
gnomAD v4:
8-89947845-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89947845T>C , CM000670.2:g.89947845T>C | GRCh38 |
| NC_000008.10:g.90960073T>C , CM000670.1:g.90960073T>C | GRCh37 |
| NC_000008.9:g.91029249T>C | NCBI36 |
| NG_008860.1:g.41827A>G , LRG_158:g.41827A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494804.2:n.3195A>G | ||
| ENST00000517337.2:c.1647A>G | ENSP00000429971.2:p.Leu549= | |
| ENST00000523444.2:c.1647A>G | ENSP00000428252.2:p.Leu549= | |
| ENST00000697292.1:c.1893A>G | ENSP00000513229.1:p.Leu631= | |
| ENST00000697293.1:c.1893A>G | ENSP00000513230.1:p.Leu631= | |
| ENST00000697294.1:c.*1504A>G | ENSP00000513231.1:n.*1504A>G | |
| ENST00000697295.1:c.*1202A>G | ENSP00000513232.1:n.*1202A>G | |
| ENST00000697296.1:c.*1561A>G | ENSP00000513233.1:n.*1561A>G | |
| ENST00000697297.1:n.3678A>G | ||
| ENST00000697298.1:c.1647A>G | ENSP00000513234.1:p.Leu549= | |
| ENST00000697299.1:c.1647A>G | ENSP00000513235.1:p.Leu549= | |
| ENST00000697300.1:c.*1497A>G | ENSP00000513236.1:n.*1497A>G | |
| ENST00000697301.1:c.*1414A>G | ENSP00000513237.1:n.*1414A>G | |
| ENST00000697302.1:c.*1414A>G | ENSP00000513238.1:n.*1414A>G | |
| ENST00000697303.1:c.*1497A>G | ENSP00000513239.1:n.*1497A>G | |
| ENST00000697304.1:c.1581A>G | ENSP00000513240.1:p.Leu527= | |
| ENST00000697306.1:c.*916A>G | ENSP00000513241.1:n.*916A>G | |
| ENST00000697307.1:c.1846-4479A>G | ENSP00000513242.1:n.1846-4479A>G | |
| ENST00000697308.1:c.1846-1550A>G | ENSP00000513243.1:n.1846-1550A>G | |
| ENST00000697309.1:c.1893A>G | ENSP00000513244.1:p.Leu631= | |
| ENST00000697310.1:c.1893A>G | ENSP00000513245.1:p.Leu631= | |
| ENST00000697311.1:c.1893A>G | ENSP00000513246.1:p.Leu631= | |
| ENST00000697312.1:c.*1291A>G | ENSP00000513247.1:n.*1291A>G | |
| ENST00000697313.1:n.2688-12233A>G | ||
| ENST00000697314.1:n.3636+5399A>G | ||
| ENST00000697315.1:c.1893A>G | ENSP00000513248.1:p.Leu631= | |
| ENST00000697316.1:n.2014A>G | ||
| ENST00000697317.1:n.2003A>G | ||
| ENST00000265433.8:c.1893A>G MANE Select | ENSP00000265433.4:p.Leu631= | |
| ENST00000265433.7:c.1893A>G | ENSP00000265433.3:p.Leu631= | |
| ENST00000396252.6:c.*1766A>G | ENSP00000379551.2:n.*1766A>G | |
| ENST00000409330.5:c.1647A>G | ENSP00000386924.1:p.Leu549= | |
| ENST00000613033.1:c.159A>G | ENSP00000484487.1:p.Leu53= | |
| NM_001024688.2:c.1647A>G | NP_001019859.1:p.Leu549= | |
| NM_002485.4:c.1893A>G , LRG_158t1:c.1893A>G | NP_002476.2:p.Leu631= | |
| XM_011517044.1:c.1869A>G | XP_011515346.1:p.Leu623= | |
| XM_011517045.1:c.1647A>G | XP_011515347.1:p.Leu549= | |
| XR_928335.1:n.2032A>G | ||
| XM_017013460.1:c.1014A>G | XP_016868949.1:p.Leu338= | |
| XM_017013462.2:c.1014A>G | XP_016868951.1:p.Leu338= | |
| XM_024447163.1:c.1647A>G | XP_024302931.1:p.Leu549= | |
| XM_024447164.1:c.1647A>G | XP_024302932.1:p.Leu549= | |
| XM_024447165.1:c.1014A>G | XP_024302933.1:p.Leu338= | |
| NM_002485.5:c.1893A>G MANE Select | NP_002476.2:p.Leu631= | |
| NM_001024688.3:c.1647A>G | NP_001019859.1:p.Leu549= |