Linked Data
ClinVar Variation Id:
39164
dbSNP Id:
rs35808389
ExAC:
12:40692290 A / G
gnomAD v2:
12-40692290-A-G
gnomAD v3:
12-40298488-A-G
gnomAD v4:
12-40298488-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40298488A>G , CM000674.2:g.40298488A>G | GRCh38 |
| NC_000012.11:g.40692290A>G , CM000674.1:g.40692290A>G | GRCh37 |
| NC_000012.10:g.38978557A>G | NCBI36 |
| NG_011709.1:g.78478A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298910.12:c.3342A>G MANE Select | ENSP00000298910.7:p.Leu1114= | |
| ENST00000679360.1:c.*2251A>G | ENSP00000505368.1:n.*2251A>G | |
| ENST00000680790.1:c.3087A>G | ENSP00000505335.1:p.Leu1029= | |
| ENST00000298910.11:c.3342A>G | ENSP00000298910.7:p.Leu1114= | |
| ENST00000343742.6:c.3342A>G | ENSP00000341930.2:p.Leu1114= | |
| ENST00000430804.5:c.386A>G | ||
| ENST00000479187.5:n.23A>G | ||
| NM_198578.3:c.3342A>G | NP_940980.3:p.Leu1114= | |
| XM_005268629.2:c.3342A>G | XP_005268686.1:p.Leu1114= | |
| XM_011537877.1:c.3342A>G | XP_011536179.1:p.Leu1114= | |
| XM_011537878.1:c.3342A>G | XP_011536180.1:p.Leu1114= | |
| XM_011537879.1:c.2139A>G | XP_011536181.1:p.Leu713= | |
| XM_011537880.1:c.3342A>G | XP_011536182.1:p.Leu1114= | |
| XM_011537881.1:c.3342A>G | XP_011536183.1:p.Leu1114= | |
| XM_011537882.1:c.3342A>G | XP_011536184.1:p.Leu1114= | |
| XM_005268629.4:c.3342A>G | XP_005268686.1:p.Leu1114= | |
| XM_011537877.3:c.3342A>G | XP_011536179.1:p.Leu1114= | |
| XM_011537881.3:c.3342A>G | XP_011536183.1:p.Leu1114= | |
| XM_011537882.3:c.3342A>G | XP_011536184.1:p.Leu1114= | |
| XM_017018786.2:c.3342A>G | XP_016874275.1:p.Leu1114= | |
| XM_017018787.1:c.258A>G | XP_016874276.1:p.Leu86= | |
| XM_017018789.2:c.3342A>G | XP_016874278.1:p.Leu1114= | |
| XM_024448833.1:c.2139A>G | XP_024304601.1:p.Leu713= | |
| XR_001748574.2:n.3584A>G | ||
| NM_198578.4:c.3342A>G MANE Select | NP_940980.4:p.Leu1114= |