Linked Data
ClinVar Variation Id:
13643
dbSNP Id:
rs61754634
ExAC:
19:34869876 C / T
gnomAD v2:
19-34869876-C-T
gnomAD v3:
19-34378971-C-T
gnomAD v4:
19-34378971-C-T
PubMed:
PMID:8822954
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.34378971C>T , CM000681.2:g.34378971C>T | GRCh38 |
| NC_000019.9:g.34869876C>T , CM000681.1:g.34869876C>T | GRCh37 |
| NC_000019.8:g.39561716C>T | NCBI36 |
| NG_012838.2:g.19232C>T | |
| NG_012838.3:g.24380C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356487.11:c.671C>T MANE Select | ENSP00000348877.3:p.Thr224Met | |
| ENST00000415930.8:c.788C>T | ENSP00000405573.3:p.Thr263Met | |
| ENST00000586425.2:c.559C>T | ||
| ENST00000588991.7:c.704C>T | ENSP00000465858.3:p.Thr235Met | |
| ENST00000589399.6:c.440C>T | ENSP00000468201.2:p.Thr147Met | |
| ENST00000643067.1:n.1181C>T | ||
| ENST00000647446.1:c.671C>T | ENSP00000495129.1:p.Thr224Met | |
| ENST00000356487.9:c.671C>T | ENSP00000348877.3:p.Thr224Met | |
| ENST00000415930.7:c.704C>T | ENSP00000405573.2:p.Thr235Met | |
| ENST00000586425.1:c.671C>T | ENSP00000467670.2:p.Thr224Met | |
| ENST00000588991.6:c.716C>T | ENSP00000465858.2:p.Thr239Met | |
| NM_000175.3:c.671C>T | NP_000166.2:p.Thr224Met | |
| NM_001184722.1:c.704C>T | NP_001171651.1:p.Thr235Met | |
| NM_001289789.1:c.788C>T | NP_001276718.1:p.Thr263Met | |
| NM_001289790.1:c.587C>T | NP_001276719.1:p.Thr196Met | |
| XM_005258764.1:c.671C>T | XP_005258821.1:p.Thr224Met | |
| XM_006723148.1:c.671C>T | XP_006723211.1:p.Thr224Met | |
| XM_011526754.1:c.788C>T | XP_011525056.1:p.Thr263Met | |
| XM_011526755.1:c.788C>T | XP_011525057.1:p.Thr263Met | |
| NM_000175.5:c.671C>T MANE Select | NP_000166.2:p.Thr224Met | |
| NM_001289790.2:c.587C>T | NP_001276719.1:p.Thr196Met | |
| NM_001329909.1:c.671C>T | NP_001316838.1:p.Thr224Met | |
| NM_001329910.1:c.671C>T | NP_001316839.1:p.Thr224Met | |
| NM_001329911.1:c.671C>T | NP_001316840.1:p.Thr224Met | |
| XM_011526754.3:c.788C>T | XP_011525056.1:p.Thr263Met | |
| NM_001289790.3:c.587C>T | NP_001276719.1:p.Thr196Met | |
| NM_001329911.2:c.671C>T | NP_001316840.1:p.Thr224Met |