Linked Data
ClinVar Variation Id:
650668
ClinVar RCV Id:
RCV000805861
dbSNP Id:
rs79310911
gnomAD v2:
13-51517508-C-T
gnomAD v3:
13-50943372-C-T
gnomAD v4:
13-50943372-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.50943372C>T , CM000675.2:g.50943372C>T | GRCh38 |
| NC_000013.10:g.51517508C>T , CM000675.1:g.51517508C>T | GRCh37 |
| NC_000013.9:g.50415509C>T | NCBI36 |
| NG_009055.1:g.38617C>T , LRG_279:g.38617C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000336617.8:c.488C>T MANE Select | ENSP00000337623.2:p.Thr163Ile | |
| ENST00000422660.6:c.488C>T | ENSP00000389877.1:p.Thr163Ile | |
| ENST00000459681.3:n.171C>T | ||
| ENST00000495244.7:n.499C>T | ||
| ENST00000611510.5:c.398C>T | ENSP00000481236.3:p.Thr133Ile | |
| ENST00000616907.2:c.488C>T | ENSP00000482701.2:p.Thr163Ile | |
| ENST00000642207.1:c.227C>T | ||
| ENST00000642454.1:c.398C>T | ENSP00000494221.1:p.Thr133Ile | |
| ENST00000642721.1:c.488C>T | ENSP00000495650.1:p.Thr163Ile | |
| ENST00000642995.1:c.371C>T | ENSP00000493499.1:p.Thr124Ile | |
| ENST00000643159.1:c.398C>T | ENSP00000495587.1:p.Thr133Ile | |
| ENST00000643215.1:c.358C>T | ||
| ENST00000643405.1:c.136C>T | ||
| ENST00000643529.1:c.1C>T | ||
| ENST00000643682.1:c.488C>T | ENSP00000493655.1:p.Thr163Ile | |
| ENST00000643774.1:c.452C>T | ENSP00000495482.1:p.Thr151Ile | |
| ENST00000644034.1:c.65-4615C>T | ENSP00000495456.1:n.65-4615C>T | |
| ENST00000644183.1:c.378C>T | ENSP00000495657.1:n.378C>T | |
| ENST00000644297.1:c.*346C>T | ENSP00000495519.1:n.*346C>T | |
| ENST00000644420.1:n.514C>T | ||
| ENST00000644425.1:c.439C>T | ||
| ENST00000644518.1:c.*355C>T | ENSP00000495793.1:n.*355C>T | |
| ENST00000645188.1:c.479C>T | ENSP00000496224.1:p.Thr160Ile | |
| ENST00000645333.1:n.420C>T | ||
| ENST00000645370.1:c.323C>T | ENSP00000494019.1:p.Thr108Ile | |
| ENST00000645618.1:c.398C>T | ENSP00000495429.1:p.Thr133Ile | |
| ENST00000645712.1:n.512C>T | ||
| ENST00000645955.1:c.488C>T | ENSP00000495755.1:p.Thr163Ile | |
| ENST00000645990.1:c.488C>T | ENSP00000496571.1:p.Thr163Ile | |
| ENST00000646092.1:c.452C>T | ENSP00000496293.1:p.Thr151Ile | |
| ENST00000646279.1:n.785C>T | ||
| ENST00000646339.1:c.150C>T | ENSP00000495773.1:n.150C>T | |
| ENST00000646709.1:c.398C>T | ENSP00000495278.1:p.Thr133Ile | |
| ENST00000646731.1:c.479C>T | ENSP00000493828.1:p.Thr160Ile | |
| ENST00000646960.1:c.488C>T | ENSP00000496481.1:p.Thr163Ile | |
| ENST00000646964.1:n.1127C>T | ||
| ENST00000647387.1:c.398C>T | ENSP00000495487.1:p.Thr133Ile | |
| ENST00000336617.7:c.488C>T | ENSP00000337623.2:p.Thr163Ile | |
| ENST00000422660.5:c.488C>T | ENSP00000389877.1:p.Thr163Ile | |
| ENST00000495244.6:n.499C>T | ||
| ENST00000611510.4:c.488C>T | ENSP00000481236.2:p.Thr163Ile | |
| ENST00000613449.4:n.2550C>T | ||
| ENST00000621641.1:n.76C>T | ||
| NM_001142279.2:c.488C>T , LRG_279t1:c.488C>T | NP_001135751.1:p.Thr163Ile | |
| NM_024570.3:c.488C>T , LRG_279t2:c.488C>T | NP_078846.2:p.Thr163Ile | |
| XM_005266524.2:c.488C>T | XP_005266581.1:p.Thr163Ile | |
| XM_005266525.2:c.488C>T | XP_005266582.1:p.Thr163Ile | |
| XM_006719867.2:c.470C>T | XP_006719930.1:p.Thr157Ile | |
| XM_011535229.1:c.488C>T | XP_011533531.1:p.Thr163Ile | |
| XM_011535230.1:c.488C>T | XP_011533532.1:p.Thr163Ile | |
| XM_011535231.1:c.488C>T | XP_011533533.1:p.Thr163Ile | |
| XM_011535232.1:c.326C>T | XP_011533534.1:p.Thr109Ile | |
| XM_011535233.1:c.80C>T | XP_011533535.1:p.Thr27Ile | |
| XM_011535234.1:c.488C>T | XP_011533536.1:p.Thr163Ile | |
| XM_006719867.4:c.470C>T | XP_006719930.1:p.Thr157Ile | |
| XM_011535230.2:c.488C>T | XP_011533532.1:p.Thr163Ile | |
| XM_011535231.2:c.488C>T | XP_011533533.1:p.Thr163Ile | |
| XM_011535233.2:c.80C>T | XP_011533535.1:p.Thr27Ile | |
| XM_017020747.1:c.488C>T | XP_016876236.1:p.Thr163Ile | |
| NM_024570.4:c.488C>T MANE Select | NP_078846.2:p.Thr163Ile |