Linked Data
ClinVar Variation Id:
89029
ClinVar RCV Id:
RCV000074503
dbSNP Id:
rs398122524
gnomAD v4:
1-100011413-C-T
PubMed:
PMID:24031089
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100011413C>T , CM000663.2:g.100011413C>T | GRCh38 |
| NC_000001.10:g.100476969C>T , CM000663.1:g.100476969C>T | GRCh37 |
| NC_000001.9:g.100249557C>T | NCBI36 |
| NG_033857.1:g.46625C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370153.6:c.640C>T | ENSP00000359172.1:p.Gln214Ter | |
| ENST00000370155.9:c.*320C>T | ENSP00000359174.5:n.*320C>T | |
| ENST00000427993.7:c.514C>T | ENSP00000414947.2:p.Gln172Ter | |
| ENST00000465289.6:c.514C>T | ENSP00000418527.2:p.Gln172Ter | |
| ENST00000533028.8:c.514C>T MANE Select | ENSP00000433849.1:p.Gln172Ter | |
| ENST00000638336.1:c.514C>T | ENSP00000491145.1:p.Gln172Ter | |
| ENST00000638338.1:c.514C>T | ENSP00000491533.1:p.Gln172Ter | |
| ENST00000638371.1:c.514C>T | ENSP00000491146.1:p.Gln172Ter | |
| ENST00000638779.1:c.391C>T | ENSP00000492662.1:p.Gln131Ter | |
| ENST00000638792.1:c.514C>T | ENSP00000491854.1:p.Gln172Ter | |
| ENST00000638876.1:c.*116C>T | ENSP00000491185.1:n.*116C>T | |
| ENST00000638968.1:c.514C>T | ENSP00000491405.1:p.Gln172Ter | |
| ENST00000638988.1:c.514C>T | ENSP00000492681.1:p.Gln172Ter | |
| ENST00000639037.1:c.514C>T | ENSP00000492745.1:p.Gln172Ter | |
| ENST00000639040.1:c.514C>T | ENSP00000492034.1:p.Gln172Ter | |
| ENST00000639088.1:c.*116C>T | ENSP00000492308.1:n.*116C>T | |
| ENST00000639148.1:c.*26C>T | ENSP00000491383.1:n.*26C>T | |
| ENST00000639171.1:c.514C>T | ENSP00000492729.1:p.Gln172Ter | |
| ENST00000639221.1:c.391C>T | ENSP00000492169.1:p.Gln131Ter | |
| ENST00000639807.1:c.391C>T | ENSP00000490964.1:p.Gln131Ter | |
| ENST00000639994.1:c.514C>T | ENSP00000492135.1:p.Gln172Ter | |
| ENST00000640178.1:c.*116C>T | ENSP00000491771.1:n.*116C>T | |
| ENST00000640238.1:c.*320C>T | ENSP00000491093.1:n.*320C>T | |
| ENST00000640357.1:c.514C>T | ENSP00000491367.1:p.Gln172Ter | |
| ENST00000640360.1:c.*116C>T | ENSP00000491598.1:n.*116C>T | |
| ENST00000640600.1:c.514C>T | ENSP00000491789.1:p.Gln172Ter | |
| ENST00000640715.1:c.514C>T | ENSP00000492801.1:p.Gln172Ter | |
| ENST00000640726.1:c.*82C>T | ENSP00000492128.1:n.*82C>T | |
| ENST00000640732.1:c.391C>T | ENSP00000492771.1:p.Gln131Ter | |
| ENST00000370153.5:c.640C>T | ENSP00000359172.1:p.Gln214Ter | |
| ENST00000370155.7:c.514C>T | ENSP00000359174.3:p.Gln172Ter | |
| ENST00000370156.3:n.471C>T | ||
| ENST00000422078.1:c.514C>T | ENSP00000401679.1:p.Gln172Ter | |
| ENST00000427993.6:c.514C>T | ENSP00000414947.2:p.Gln172Ter | |
| ENST00000465289.5:c.514C>T | ENSP00000418527.1:p.Gln172Ter | |
| ENST00000533028.5:c.514C>T | ENSP00000433849.1:p.Gln172Ter | |
| NM_001271684.1:c.514C>T | NP_001258613.1:p.Gln172Ter | |
| NM_001271685.1:c.640C>T | NP_001258614.1:p.Gln214Ter | |
| NM_012243.2:c.514C>T | NP_036375.1:p.Gln172Ter | |
| XM_005270691.3:c.514C>T | XP_005270748.1:p.Gln172Ter | |
| XM_005270693.2:c.124C>T | XP_005270750.1:p.Gln42Ter | |
| XM_011541135.1:c.517C>T | XP_011539437.1:p.Gln173Ter | |
| XM_011541136.1:c.514C>T | XP_011539438.1:p.Gln172Ter | |
| XM_011541137.1:c.640C>T | XP_011539439.1:p.Gln214Ter | |
| XM_011541138.1:c.640C>T | XP_011539440.1:p.Gln214Ter | |
| XM_011541139.1:c.*82C>T | XP_011539441.1:n.*82C>T | |
| XR_947626.1:n.269+26317G>A | ||
| XR_947627.1:n.269+26317G>A | ||
| XR_947628.1:n.269+26317G>A | ||
| XR_947629.1:n.269+26317G>A | ||
| XR_947630.1:n.269+26317G>A | ||
| XR_947631.1:n.269+26317G>A | ||
| XR_947632.1:n.269+26317G>A | ||
| XR_947633.1:n.269+26317G>A | ||
| XR_947634.1:n.269+26317G>A | ||
| XR_947635.1:n.269+26317G>A | ||
| XM_005270691.5:c.514C>T | XP_005270748.1:p.Gln172Ter | |
| XM_011541135.3:c.517C>T | XP_011539437.1:p.Gln173Ter | |
| XM_011541136.2:c.514C>T | XP_011539438.1:p.Gln172Ter | |
| XM_011541137.3:c.640C>T | XP_011539439.1:p.Gln214Ter | |
| XM_011541138.3:c.640C>T | XP_011539440.1:p.Gln214Ter | |
| XM_017000869.2:c.391C>T | XP_016856358.1:p.Gln131Ter | |
| XM_017000870.2:c.514C>T | XP_016856359.1:p.Gln172Ter | |
| XM_017000871.2:c.391C>T | XP_016856360.1:p.Gln131Ter | |
| NM_012243.3:c.514C>T MANE Select | NP_036375.1:p.Gln172Ter | |
| NM_001271684.2:c.514C>T | NP_001258613.1:p.Gln172Ter | |
| NM_001271685.2:c.640C>T | NP_001258614.1:p.Gln214Ter |