Linked Data
ClinVar Variation Id:
466122
dbSNP Id:
rs112066743
gnomAD v2:
9-135771945-G-T
gnomAD v3:
9-132896558-G-T
gnomAD v4:
9-132896558-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132896558G>T , CM000671.2:g.132896558G>T | GRCh38 |
| NC_000009.11:g.135771945G>T , CM000671.1:g.135771945G>T | GRCh37 |
| NC_000009.10:g.134761766G>T | NCBI36 |
| NG_012386.1:g.53076C>A , LRG_486:g.53076C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475903.7:c.3169C>A | ENSP00000496126.2:p.Pro1057Thr | |
| ENST00000490179.4:c.3172C>A | ENSP00000495533.2:p.Pro1058Thr | |
| ENST00000642261.2:c.*1028C>A | ENSP00000494743.2:n.*1028C>A | |
| ENST00000643275.2:c.*1112C>A | ENSP00000495598.2:n.*1112C>A | |
| ENST00000643362.2:c.2785C>A | ENSP00000496398.2:p.Pro929Thr | |
| ENST00000643625.2:c.*914C>A | ENSP00000495546.2:n.*914C>A | |
| ENST00000643691.2:c.2809C>A | ENSP00000494916.2:p.Pro937Thr | |
| ENST00000644184.2:c.3130C>A | ENSP00000495428.2:p.Pro1044Thr | |
| ENST00000645129.2:c.3016C>A | ENSP00000493639.2:p.Pro1006Thr | |
| ENST00000646440.2:c.3172C>A | ENSP00000495830.2:p.Pro1058Thr | |
| ENST00000298552.9:c.3172C>A MANE Select | ENSP00000298552.3:p.Pro1058Thr | |
| ENST00000642261.1:c.1309C>A | ||
| ENST00000642617.1:c.3169C>A | ENSP00000493773.1:p.Pro1057Thr | |
| ENST00000642627.1:c.3154C>A | ENSP00000496772.1:p.Pro1052Thr | |
| ENST00000642811.1:c.*2942C>A | ENSP00000495554.1:n.*2942C>A | |
| ENST00000643072.1:c.3019C>A | ENSP00000496691.1:p.Pro1007Thr | |
| ENST00000643275.1:c.1646C>A | ENSP00000495598.1:n.1646C>A | |
| ENST00000643583.1:c.3157C>A | ENSP00000494685.1:p.Pro1053Thr | |
| ENST00000643625.1:c.1049C>A | ENSP00000495546.1:n.1049C>A | |
| ENST00000643875.1:c.3172C>A | ENSP00000495158.1:p.Pro1058Thr | |
| ENST00000644097.1:c.3169C>A | ENSP00000494682.1:p.Pro1057Thr | |
| ENST00000644184.1:c.1867C>A | ENSP00000495428.1:p.Pro623Thr | |
| ENST00000644255.1:c.*2939C>A | ENSP00000493608.1:n.*2939C>A | |
| ENST00000644319.1:n.3547C>A | ||
| ENST00000644786.1:n.831C>A | ||
| ENST00000644882.1:n.2080C>A | ||
| ENST00000645901.1:n.4023C>A | ||
| ENST00000646391.1:c.*2942C>A | ENSP00000494104.1:n.*2942C>A | |
| ENST00000646625.1:c.3172C>A | ENSP00000496263.1:p.Pro1058Thr | |
| ENST00000647262.1:n.2137C>A | ||
| ENST00000647279.1:c.*2411C>A | ENSP00000494502.1:n.*2411C>A | |
| ENST00000647534.1:n.2236C>A | ||
| ENST00000298552.7:c.3172C>A | ENSP00000298552.3:p.Pro1058Thr | |
| ENST00000440111.6:c.3172C>A | ENSP00000394524.2:p.Pro1058Thr | |
| ENST00000545250.5:c.3019C>A | ENSP00000444017.1:p.Pro1007Thr | |
| NM_000368.4:c.3172C>A , LRG_486t1:c.3172C>A | NP_000359.1:p.Pro1058Thr | |
| NM_001162426.1:c.3169C>A | NP_001155898.1:p.Pro1057Thr | |
| NM_001162427.1:c.3019C>A | NP_001155899.1:p.Pro1007Thr | |
| XM_005272211.1:c.3172C>A | XP_005272268.1:p.Pro1058Thr | |
| XM_006717271.1:c.3172C>A | XP_006717334.1:p.Pro1058Thr | |
| XM_011518979.1:c.3172C>A | XP_011517281.1:p.Pro1058Thr | |
| NM_001362177.1:c.2809C>A | NP_001349106.1:p.Pro937Thr | |
| XM_011518979.2:c.3172C>A | XP_011517281.1:p.Pro1058Thr | |
| XM_017015096.1:c.3172C>A | XP_016870585.1:p.Pro1058Thr | |
| XM_017015097.1:c.3172C>A | XP_016870586.1:p.Pro1058Thr | |
| XM_017015098.1:c.3169C>A | XP_016870587.1:p.Pro1057Thr | |
| XM_017015100.1:c.2809C>A | XP_016870589.1:p.Pro937Thr | |
| XM_017015101.1:c.2806C>A | XP_016870590.1:p.Pro936Thr | |
| NM_000368.5:c.3172C>A MANE Select | NP_000359.1:p.Pro1058Thr | |
| NM_001162426.2:c.3169C>A | NP_001155898.1:p.Pro1057Thr | |
| NM_001162427.2:c.3019C>A | NP_001155899.1:p.Pro1007Thr | |
| NM_001362177.2:c.2809C>A | NP_001349106.1:p.Pro937Thr |