Linked Data
dbSNP Id:
rs144712473
ExAC:
1:183495812 A / G
gnomAD v2:
1-183495812-A-G
gnomAD v3:
1-183526677-A-G
gnomAD v4:
1-183526677-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183526677A>G , CM000663.2:g.183526677A>G | GRCh38 |
| NC_000001.10:g.183495812A>G , CM000663.1:g.183495812A>G | GRCh37 |
| NC_000001.9:g.181762435A>G | NCBI36 |
| NG_029808.1:g.59307A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000685780.1:c.481A>G | ENSP00000508915.1:p.Lys161Glu | |
| ENST00000688051.1:c.394A>G MANE Select | ENSP00000510175.1:p.Lys132Glu | |
| ENST00000347615.6:c.394A>G | ENSP00000340766.2:p.Lys132Glu | |
| ENST00000367537.7:c.481A>G | ENSP00000356507.3:p.Lys161Glu | |
| ENST00000419169.5:c.268A>G | ENSP00000388390.1:p.Lys90Glu | |
| ENST00000440812.7:c.394A>G | ENSP00000410254.3:p.Lys132Glu | |
| ENST00000444547.6:c.*234A>G | ENSP00000400220.2:n.*234A>G | |
| ENST00000507406.1:n.149A>G | ||
| ENST00000507469.5:c.394A>G | ENSP00000425133.1:p.Lys132Glu | |
| ENST00000508461.5:c.268A>G | ENSP00000426915.1:p.Lys90Glu | |
| ENST00000515829.6:c.394A>G | ENSP00000421358.2:p.Lys132Glu | |
| NM_001174061.1:c.268A>G | NP_001167532.1:p.Lys90Glu | |
| NM_173156.2:c.394A>G | NP_775179.1:p.Lys132Glu | |
| NM_201568.2:c.394A>G | NP_963862.1:p.Lys132Glu | |
| NM_201569.2:c.394A>G | NP_963863.2:p.Lys132Glu | |
| XM_005245648.2:c.481A>G | XP_005245705.1:p.Lys161Glu | |
| XM_005245649.2:c.481A>G | XP_005245706.1:p.Lys161Glu | |
| XM_005245652.2:c.394A>G | XP_005245709.1:p.Lys132Glu | |
| XM_005245653.3:c.340A>G | XP_005245710.1:p.Lys114Glu | |
| XM_006711676.2:c.481A>G | XP_006711739.1:p.Lys161Glu | |
| XM_006711678.2:c.394A>G | XP_006711741.1:p.Lys132Glu | |
| XM_011510205.1:c.481A>G | XP_011508507.1:p.Lys161Glu | |
| XM_011510206.1:c.481A>G | XP_011508508.1:p.Lys161Glu | |
| XM_011510207.1:c.340A>G | XP_011508509.1:p.Lys114Glu | |
| XM_011510208.1:c.481A>G | XP_011508510.1:p.Lys161Glu | |
| XM_011510209.1:c.481A>G | XP_011508511.1:p.Lys161Glu | |
| XM_011510210.1:c.268A>G | XP_011508512.1:p.Lys90Glu | |
| XM_011510211.1:c.-718A>G | XP_011508513.1:n.-718A>G | |
| NM_001331007.1:c.481A>G | NP_001317936.1:p.Lys161Glu | |
| NM_001350219.1:c.481A>G | NP_001337148.1:p.Lys161Glu | |
| NM_001350220.1:c.481A>G | NP_001337149.1:p.Lys161Glu | |
| NM_001350221.1:c.481A>G | NP_001337150.1:p.Lys161Glu | |
| NM_001350222.1:c.-612A>G | NP_001337151.1:n.-612A>G | |
| XM_005245649.4:c.481A>G | XP_005245706.1:p.Lys161Glu | |
| XM_005245652.3:c.394A>G | XP_005245709.1:p.Lys132Glu | |
| XM_005245653.5:c.340A>G | XP_005245710.1:p.Lys114Glu | |
| XM_006711678.3:c.394A>G | XP_006711741.1:p.Lys132Glu | |
| XM_011510205.3:c.481A>G | XP_011508507.1:p.Lys161Glu | |
| XM_011510206.3:c.481A>G | XP_011508508.1:p.Lys161Glu | |
| XM_011510207.3:c.340A>G | XP_011508509.1:p.Lys114Glu | |
| XM_011510208.3:c.481A>G | XP_011508510.1:p.Lys161Glu | |
| XM_011510209.3:c.481A>G | XP_011508511.1:p.Lys161Glu | |
| XM_011510210.2:c.268A>G | XP_011508512.1:p.Lys90Glu | |
| XM_017002968.2:c.268A>G | XP_016858457.1:p.Lys90Glu | |
| XM_017002969.1:c.-612A>G | XP_016858458.1:n.-612A>G | |
| XM_017002970.1:c.-536A>G | XP_016858459.1:n.-536A>G | |
| NM_001174061.2:c.268A>G | NP_001167532.1:p.Lys90Glu | |
| NM_001331007.2:c.481A>G | NP_001317936.1:p.Lys161Glu | |
| NM_001350219.2:c.481A>G | NP_001337148.1:p.Lys161Glu | |
| NM_001350220.2:c.481A>G | NP_001337149.1:p.Lys161Glu | |
| NM_001350221.2:c.481A>G | NP_001337150.1:p.Lys161Glu | |
| NM_001350222.2:c.-612A>G | NP_001337151.1:n.-612A>G | |
| NM_001375584.1:c.394A>G MANE Select | NP_001362513.1:p.Lys132Glu | |
| NM_001375585.1:c.394A>G | NP_001362514.1:p.Lys132Glu | |
| NM_173156.3:c.394A>G | NP_775179.1:p.Lys132Glu | |
| NM_201568.3:c.394A>G | NP_963862.1:p.Lys132Glu | |
| NM_201569.3:c.394A>G | NP_963863.2:p.Lys132Glu | |
| NM_001394133.1:c.481A>G | NP_001381062.1:p.Lys161Glu | |
| NM_001394134.1:c.481A>G | NP_001381063.1:p.Lys161Glu | |
| NM_001394135.1:c.481A>G | NP_001381064.1:p.Lys161Glu | |
| NM_001394136.1:c.481A>G | NP_001381065.1:p.Lys161Glu | |
| NM_001394137.1:c.268A>G | NP_001381066.1:p.Lys90Glu | |
| NM_001394138.1:c.481A>G | NP_001381067.1:p.Lys161Glu | |
| NM_001394139.1:c.481A>G | NP_001381068.1:p.Lys161Glu | |
| NM_001394140.1:c.340A>G | NP_001381069.1:p.Lys114Glu | |
| NM_001394141.1:c.268A>G | NP_001381070.1:p.Lys90Glu | |
| NM_001394142.1:c.268A>G | NP_001381071.1:p.Lys90Glu | |
| NM_001394143.1:c.268A>G | NP_001381072.1:p.Lys90Glu | |
| NM_001394144.1:c.226A>G | NP_001381073.1:p.Lys76Glu | |
| NM_001394145.1:c.340A>G | NP_001381074.1:p.Lys114Glu | |
| NM_001394146.1:c.340A>G | NP_001381075.1:p.Lys114Glu | |
| NM_001394147.1:c.268A>G | NP_001381076.1:p.Lys90Glu |