Linked Data
ClinVar Variation Id:
1757418
ClinVar RCV Id:
RCV002367564
dbSNP Id:
rs772218025
gnomAD v2:
12-40757333-A-G
gnomAD v4:
12-40363531-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40363531A>G , CM000674.2:g.40363531A>G | GRCh38 |
| NC_000012.11:g.40757333A>G , CM000674.1:g.40757333A>G | GRCh37 |
| NC_000012.10:g.39043600A>G | NCBI36 |
| NG_011709.1:g.143521A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298910.12:c.7158A>G MANE Select | ENSP00000298910.7:p.Leu2386= | |
| ENST00000636518.1:c.955A>G | ||
| ENST00000679360.1:c.*6067A>G | ENSP00000505368.1:n.*6067A>G | |
| ENST00000679532.1:c.2932A>G | ||
| ENST00000679683.1:c.948A>G | ||
| ENST00000680018.1:c.2603A>G | ENSP00000505347.1:n.2603A>G | |
| ENST00000680422.1:c.4245A>G | ||
| ENST00000680425.1:c.2325A>G | ENSP00000506459.1:n.2325A>G | |
| ENST00000680453.1:c.2615A>G | ||
| ENST00000680790.1:c.6903A>G | ENSP00000505335.1:p.Leu2301= | |
| ENST00000681136.1:n.3142A>G | ||
| ENST00000681696.1:c.2841A>G | ENSP00000505871.1:p.Leu947= | |
| ENST00000681773.1:n.365A>G | ||
| ENST00000298910.11:c.7158A>G | ENSP00000298910.7:p.Leu2386= | |
| ENST00000430804.5:c.4454A>G | ||
| ENST00000479187.5:n.3839A>G | ||
| NM_198578.3:c.7158A>G | NP_940980.3:p.Leu2386= | |
| XM_005268629.2:c.7158A>G | XP_005268686.1:p.Leu2386= | |
| XM_011537877.1:c.7158A>G | XP_011536179.1:p.Leu2386= | |
| XM_011537879.1:c.5955A>G | XP_011536181.1:p.Leu1985= | |
| XR_944868.1:n.485-8704T>C | ||
| XM_005268629.4:c.7158A>G | XP_005268686.1:p.Leu2386= | |
| XM_011537877.3:c.7158A>G | XP_011536179.1:p.Leu2386= | |
| XM_017018787.1:c.4074A>G | XP_016874276.1:p.Leu1358= | |
| XM_017018788.2:c.3420A>G | XP_016874277.1:p.Leu1140= | |
| XM_024448833.1:c.5955A>G | XP_024304601.1:p.Leu1985= | |
| XR_944868.2:n.485-8704T>C | ||
| NM_198578.4:c.7158A>G MANE Select | NP_940980.4:p.Leu2386= |