Linked Data
ClinVar Variation Id:
423783
ClinVar RCV Id:
RCV000485209
dbSNP Id:
rs1064796627
gnomAD v2:
8-133920439-C-A
gnomAD v3:
8-132908194-C-A
gnomAD v4:
8-132908194-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132908194C>A , CM000670.2:g.132908194C>A | GRCh38 |
| NC_000008.10:g.133920439C>A , CM000670.1:g.133920439C>A | GRCh37 |
| NC_000008.9:g.133989621C>A | NCBI36 |
| NG_015832.1:g.46235C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220616.9:c.3856C>A MANE Select | ENSP00000220616.4:p.Leu1286Met | |
| ENST00000220616.8:c.3856C>A | ENSP00000220616.4:p.Leu1286Met | |
| ENST00000523756.5:c.511C>A | ||
| NM_003235.4:c.3856C>A | NP_003226.4:p.Leu1286Met | |
| XM_005251038.3:c.3856C>A | XP_005251095.1:p.Leu1286Met | |
| XM_005251040.3:c.3856C>A | XP_005251097.1:p.Leu1286Met | |
| XM_005251042.3:c.3856C>A | XP_005251099.1:p.Leu1286Met | |
| XM_005251043.3:c.3856C>A | XP_005251100.1:p.Leu1286Met | |
| XM_006716622.2:c.3856C>A | XP_006716685.1:p.Leu1286Met | |
| XM_005251038.4:c.3856C>A | XP_005251095.1:p.Leu1286Met | |
| XM_005251040.4:c.3856C>A | XP_005251097.1:p.Leu1286Met | |
| XM_005251042.4:c.3856C>A | XP_005251099.1:p.Leu1286Met | |
| XM_006716622.3:c.3856C>A | XP_006716685.1:p.Leu1286Met | |
| XM_017013793.1:c.3856C>A | XP_016869282.1:p.Leu1286Met | |
| XM_017013794.1:c.3856C>A | XP_016869283.1:p.Leu1286Met | |
| XM_017013795.1:c.3856C>A | XP_016869284.1:p.Leu1286Met | |
| XM_017013796.1:c.3856C>A | XP_016869285.1:p.Leu1286Met | |
| XM_017013797.1:c.3595C>A | XP_016869286.1:p.Leu1199Met | |
| XM_017013798.1:c.3856C>A | XP_016869287.1:p.Leu1286Met | |
| XM_017013799.1:c.3856C>A | XP_016869288.1:p.Leu1286Met | |
| XM_017013800.1:c.3856C>A | XP_016869289.1:p.Leu1286Met | |
| NM_003235.5:c.3856C>A MANE Select | NP_003226.4:p.Leu1286Met |