Linked Data
ClinVar Variation Id:
56623
dbSNP Id:
rs386834050
ExAC:
17:56292145 G / A
gnomAD v2:
17-56292145-G-A
gnomAD v4:
17-58214784-G-A
PubMed:
PMID:17397051
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58214784G>A , CM000679.2:g.58214784G>A | GRCh38 |
| NC_000017.10:g.56292145G>A , CM000679.1:g.56292145G>A | GRCh37 |
| NC_000017.9:g.53647144G>A | NCBI36 |
| NG_013032.1:g.9822C>T , LRG_687:g.9822C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313863.11:c.472C>T | ENSP00000316631.6:p.Arg158Ter | |
| ENST00000393119.7:c.472C>T MANE Select | ENSP00000376827.2:p.Arg158Ter | |
| ENST00000537529.7:c.43C>T | ENSP00000442096.3:p.Arg15Ter | |
| ENST00000580127.6:c.472C>T | ENSP00000462423.2:p.Arg158Ter | |
| ENST00000581761.6:c.472C>T | ENSP00000462129.2:p.Arg158Ter | |
| ENST00000585134.2:c.472C>T | ENSP00000463826.2:p.Arg158Ter | |
| ENST00000675753.2:c.*91C>T | ENSP00000502156.1:n.*91C>T | |
| ENST00000676787.1:c.472C>T | ENSP00000503999.1:p.Arg158Ter | |
| ENST00000676975.1:c.337C>T | ENSP00000503970.1:n.337C>T | |
| ENST00000677076.1:n.1746C>T | ||
| ENST00000677111.1:c.472C>T | ENSP00000504282.1:p.Arg158Ter | |
| ENST00000677160.1:n.1746C>T | ||
| ENST00000677416.1:n.497C>T | ||
| ENST00000677475.1:n.1749C>T | ||
| ENST00000677486.1:c.262-915C>T | ENSP00000503852.1:n.262-915C>T | |
| ENST00000677546.1:c.418-915C>T | ENSP00000504043.1:n.418-915C>T | |
| ENST00000677709.1:n.497C>T | ||
| ENST00000677791.1:n.500C>T | ||
| ENST00000678011.1:n.497C>T | ||
| ENST00000678211.1:n.2168C>T | ||
| ENST00000678432.1:c.*91C>T | ENSP00000504452.1:n.*91C>T | |
| ENST00000678463.1:c.472C>T | ENSP00000502984.1:p.Arg158Ter | |
| ENST00000678481.1:n.446-915C>T | ||
| ENST00000678568.1:c.245C>T | ENSP00000504754.1:p.Ala82Val | |
| ENST00000678641.1:c.418-915C>T | ENSP00000503159.1:n.418-915C>T | |
| ENST00000678928.1:n.1746C>T | ||
| ENST00000679081.1:n.1746C>T | ||
| ENST00000313863.10:c.472C>T | ENSP00000316631.6:p.Arg158Ter | |
| ENST00000393119.6:c.472C>T | ENSP00000376827.2:p.Arg158Ter | |
| ENST00000393120.6:c.418-397C>T | ENSP00000376828.2:n.418-397C>T | |
| ENST00000537529.6:c.442C>T | ENSP00000442096.2:p.Arg148Ter | |
| ENST00000578789.1:c.*215C>T | ENSP00000462411.1:n.*215C>T | |
| ENST00000580127.5:c.*91C>T | ENSP00000462423.1:n.*91C>T | |
| ENST00000581761.5:c.245C>T | ENSP00000462129.1:p.Ala82Val | |
| NM_001165927.1:c.442C>T , LRG_687t2:c.442C>T | NP_001159399.1:p.Arg148Ter | |
| NM_017777.3:c.472C>T , LRG_687t1:c.472C>T | NP_060247.2:p.Arg158Ter | |
| XM_005257483.3:c.472C>T | XP_005257540.1:p.Arg158Ter | |
| XM_005257485.3:c.43C>T | XP_005257542.1:p.Arg15Ter | |
| XM_005257486.3:c.-94-397C>T | XP_005257543.1:n.-94-397C>T | |
| XM_006721965.2:c.-94-397C>T | XP_006722028.1:n.-94-397C>T | |
| XM_011524957.1:c.481C>T | XP_011523259.1:p.Arg161Ter | |
| XM_011524958.1:c.481C>T | XP_011523260.1:p.Arg161Ter | |
| XM_011524959.1:c.481C>T | XP_011523261.1:p.Arg161Ter | |
| XM_011524960.1:c.481C>T | XP_011523262.1:p.Arg161Ter | |
| XR_934494.1:n.529C>T | ||
| NM_001321268.1:c.-94-397C>T | NP_001308197.1:n.-94-397C>T | |
| NM_001321269.1:c.472C>T | NP_001308198.1:p.Arg158Ter | |
| NM_001330397.1:c.472C>T | NP_001317326.1:p.Arg158Ter | |
| XM_005257485.4:c.43C>T | XP_005257542.1:p.Arg15Ter | |
| XM_006721965.3:c.-94-397C>T | XP_006722028.1:n.-94-397C>T | |
| XM_011524957.2:c.481C>T | XP_011523259.1:p.Arg161Ter | |
| XM_011524958.2:c.481C>T | XP_011523260.1:p.Arg161Ter | |
| XM_011524959.2:c.481C>T | XP_011523261.1:p.Arg161Ter | |
| XM_011524960.2:c.481C>T | XP_011523262.1:p.Arg161Ter | |
| XM_017024804.2:c.472C>T | XP_016880293.1:p.Arg158Ter | |
| XM_017024805.1:c.43C>T | XP_016880294.1:p.Arg15Ter | |
| XR_002958042.1:n.526C>T | ||
| NM_001321268.2:c.-94-397C>T | NP_001308197.1:n.-94-397C>T | |
| NM_001321269.2:c.472C>T | NP_001308198.1:p.Arg158Ter | |
| NM_001330397.2:c.472C>T | NP_001317326.1:p.Arg158Ter | |
| NM_017777.4:c.472C>T MANE Select | NP_060247.2:p.Arg158Ter |