Linked Data
ClinVar Variation Id:
2604783
ClinVar RCV Id:
RCV003357387
dbSNP Id:
rs777103638
ExAC:
17:56290378 C / T
gnomAD v2:
17-56290378-C-T
gnomAD v4:
17-58213017-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58213017C>T , CM000679.2:g.58213017C>T | GRCh38 |
| NC_000017.10:g.56290378C>T , CM000679.1:g.56290378C>T | GRCh37 |
| NC_000017.9:g.53645377C>T | NCBI36 |
| NG_013032.1:g.11589G>A , LRG_687:g.11589G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313863.11:c.823G>A | ENSP00000316631.6:p.Glu275Lys | |
| ENST00000393119.7:c.823G>A MANE Select | ENSP00000376827.2:p.Glu275Lys | |
| ENST00000537529.7:c.394G>A | ENSP00000442096.3:p.Glu132Lys | |
| ENST00000580127.6:c.823G>A | ENSP00000462423.2:p.Glu275Lys | |
| ENST00000581761.6:c.823G>A | ENSP00000462129.2:p.Glu275Lys | |
| ENST00000585134.2:c.823G>A | ENSP00000463826.2:p.Glu275Lys | |
| ENST00000675753.2:c.*442G>A | ENSP00000502156.1:n.*442G>A | |
| ENST00000676787.1:c.694G>A | ENSP00000503999.1:p.Glu232Lys | |
| ENST00000676975.1:c.688G>A | ENSP00000503970.1:n.688G>A | |
| ENST00000677076.1:n.2097G>A | ||
| ENST00000677111.1:c.823G>A | ENSP00000504282.1:p.Glu275Lys | |
| ENST00000677160.1:n.2097G>A | ||
| ENST00000677416.1:n.848G>A | ||
| ENST00000677475.1:n.2774G>A | ||
| ENST00000677486.1:c.*167G>A | ENSP00000503852.1:n.*167G>A | |
| ENST00000677546.1:c.*167G>A | ENSP00000504043.1:n.*167G>A | |
| ENST00000677709.1:n.848G>A | ||
| ENST00000678011.1:n.848G>A | ||
| ENST00000678211.1:n.2872G>A | ||
| ENST00000678432.1:c.*442G>A | ENSP00000504452.1:n.*442G>A | |
| ENST00000678463.1:c.823G>A | ENSP00000502984.1:p.Glu275Lys | |
| ENST00000678481.1:n.624G>A | ||
| ENST00000678568.1:c.*230G>A | ENSP00000504754.1:n.*230G>A | |
| ENST00000678641.1:c.*167G>A | ENSP00000503159.1:n.*167G>A | |
| ENST00000678928.1:n.2450G>A | ||
| ENST00000679081.1:n.2839G>A | ||
| ENST00000313863.10:c.823G>A | ENSP00000316631.6:p.Glu275Lys | |
| ENST00000393119.6:c.823G>A | ENSP00000376827.2:p.Glu275Lys | |
| ENST00000393120.6:c.*230G>A | ENSP00000376828.2:n.*230G>A | |
| ENST00000537529.6:c.793G>A | ENSP00000442096.2:p.Glu265Lys | |
| ENST00000577824.5:c.300G>A | ||
| ENST00000581761.5:c.*230G>A | ENSP00000462129.1:n.*230G>A | |
| ENST00000585134.1:c.46G>A | ENSP00000463826.1:p.Glu16Lys | |
| NM_001165927.1:c.793G>A , LRG_687t2:c.793G>A | NP_001159399.1:p.Glu265Lys | |
| NM_017777.3:c.823G>A , LRG_687t1:c.823G>A | NP_060247.2:p.Glu275Lys | |
| XM_005257483.3:c.823G>A | XP_005257540.1:p.Glu275Lys | |
| XM_005257485.3:c.394G>A | XP_005257542.1:p.Glu132Lys | |
| XM_005257486.3:c.214G>A | XP_005257543.1:p.Glu72Lys | |
| XM_006721965.2:c.214G>A | XP_006722028.1:p.Glu72Lys | |
| XM_011524957.1:c.832G>A | XP_011523259.1:p.Glu278Lys | |
| XM_011524958.1:c.832G>A | XP_011523260.1:p.Glu278Lys | |
| XM_011524959.1:c.832G>A | XP_011523261.1:p.Glu278Lys | |
| XM_011524960.1:c.832G>A | XP_011523262.1:p.Glu278Lys | |
| XR_934494.1:n.880G>A | ||
| NM_001321268.1:c.214G>A | NP_001308197.1:p.Glu72Lys | |
| NM_001321269.1:c.823G>A | NP_001308198.1:p.Glu275Lys | |
| NM_001330397.1:c.823G>A | NP_001317326.1:p.Glu275Lys | |
| XM_005257485.4:c.394G>A | XP_005257542.1:p.Glu132Lys | |
| XM_006721965.3:c.214G>A | XP_006722028.1:p.Glu72Lys | |
| XM_011524957.2:c.832G>A | XP_011523259.1:p.Glu278Lys | |
| XM_011524958.2:c.832G>A | XP_011523260.1:p.Glu278Lys | |
| XM_011524959.2:c.832G>A | XP_011523261.1:p.Glu278Lys | |
| XM_011524960.2:c.832G>A | XP_011523262.1:p.Glu278Lys | |
| XM_017024804.2:c.823G>A | XP_016880293.1:p.Glu275Lys | |
| XM_017024805.1:c.394G>A | XP_016880294.1:p.Glu132Lys | |
| XR_002958042.1:n.877G>A | ||
| NM_001321268.2:c.214G>A | NP_001308197.1:p.Glu72Lys | |
| NM_001321269.2:c.823G>A | NP_001308198.1:p.Glu275Lys | |
| NM_001330397.2:c.823G>A | NP_001317326.1:p.Glu275Lys | |
| NM_017777.4:c.823G>A MANE Select | NP_060247.2:p.Glu275Lys |