Linked Data
dbSNP Id:
rs751206924
ExAC:
4:55599289 C / G
gnomAD v2:
4-55599289-C-G
gnomAD v4:
4-54733123-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54733123C>G , CM000666.2:g.54733123C>G | GRCh38 |
| NC_000004.11:g.55599289C>G , CM000666.1:g.55599289C>G | GRCh37 |
| NC_000004.10:g.55294046C>G | NCBI36 |
| NG_007456.1:g.80129C>G , LRG_307:g.80129C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412167.7:c.2403C>G | ENSP00000390987.3:p.Ile801Met | |
| ENST00000685269.1:n.2493C>G | ||
| ENST00000686011.1:c.2400C>G | ENSP00000509704.1:p.Ile800Met | |
| ENST00000687109.1:c.2418C>G | ENSP00000509371.1:p.Ile806Met | |
| ENST00000687208.1:n.2827C>G | ||
| ENST00000687246.1:c.2349+1125C>G | ENSP00000509114.1:n.2349+1125C>G | |
| ENST00000687265.1:n.2573C>G | ||
| ENST00000687295.1:c.2403C>G | ENSP00000509450.1:p.Ile801Met | |
| ENST00000688060.1:n.212C>G | ||
| ENST00000688704.1:n.1427C>G | ||
| ENST00000689832.1:c.2415C>G | ENSP00000509084.1:p.Ile805Met | |
| ENST00000689994.1:c.1905C>G | ENSP00000509156.1:p.Ile635Met | |
| ENST00000690543.1:c.2406C>G | ENSP00000508831.1:p.Ile802Met | |
| ENST00000690917.1:n.2633C>G | ||
| ENST00000691361.1:n.1325C>G | ||
| ENST00000692783.1:c.2412C>G | ENSP00000508733.1:p.Ile804Met | |
| ENST00000692991.1:n.2512C>G | ||
| ENST00000288135.6:c.2415C>G MANE Select | ENSP00000288135.6:p.Ile805Met | |
| ENST00000288135.5:c.2415C>G | ENSP00000288135.5:p.Ile805Met | |
| ENST00000412167.6:c.2403C>G | ENSP00000390987.2:p.Ile801Met | |
| ENST00000512959.1:n.468C>G | ||
| NM_000222.2:c.2415C>G , LRG_307t1:c.2415C>G | NP_000213.1:p.Ile805Met | |
| NM_001093772.1:c.2403C>G | NP_001087241.1:p.Ile801Met | |
| XM_005265740.1:c.2418C>G | XP_005265797.1:p.Ile806Met | |
| XM_005265741.1:c.2415C>G | XP_005265798.1:p.Ile805Met | |
| XM_005265742.1:c.2406C>G | XP_005265799.1:p.Ile802Met | |
| XM_005265742.3:c.2406C>G | XP_005265799.1:p.Ile802Met | |
| XM_017008178.1:c.2412C>G | XP_016863667.1:p.Ile804Met | |
| XM_017008179.1:c.2403C>G | XP_016863668.1:p.Ile801Met | |
| XM_017008180.1:c.2400C>G | XP_016863669.1:p.Ile800Met | |
| NM_000222.3:c.2415C>G MANE Select | NP_000213.1:p.Ile805Met | |
| NM_001093772.2:c.2403C>G | NP_001087241.1:p.Ile801Met | |
| NM_001385284.1:c.2418C>G | NP_001372213.1:p.Ile806Met | |
| NM_001385285.1:c.2412C>G | NP_001372214.1:p.Ile804Met | |
| NM_001385286.1:c.2400C>G | NP_001372215.1:p.Ile800Met | |
| NM_001385288.1:c.2406C>G | NP_001372217.1:p.Ile802Met | |
| NM_001385290.1:c.2415C>G | NP_001372219.1:p.Ile805Met | |
| NM_001385292.1:c.2403C>G | NP_001372221.1:p.Ile801Met |