Linked Data
ClinVar Variation Id:
157600
dbSNP Id:
rs606231280
gnomAD v2:
3-38950645-A-G
gnomAD v4:
3-38909154-A-G
PubMed:
PMID:24776970
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38909154A>G , CM000665.2:g.38909154A>G | GRCh38 |
| NC_000003.11:g.38950645A>G , CM000665.1:g.38950645A>G | GRCh37 |
| NC_000003.10:g.38925649A>G | NCBI36 |
| NG_033859.1:g.46408T>C | |
| NG_033859.2:g.147833T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000302328.9:c.1142T>C MANE Select | ENSP00000307599.3:p.Ile381Thr | |
| ENST00000668754.1:c.1142T>C | ENSP00000499569.1:p.Ile381Thr | |
| ENST00000675223.1:c.1142T>C | ENSP00000502481.1:p.Ile381Thr | |
| ENST00000675672.1:c.1142T>C | ENSP00000502446.1:p.Ile381Thr | |
| ENST00000675892.1:c.962T>C | ENSP00000502318.1:p.Ile321Thr | |
| ENST00000676045.1:c.1186T>C | ENSP00000501685.1:n.1186T>C | |
| ENST00000676176.1:c.1142T>C | ENSP00000501891.1:p.Ile381Thr | |
| ENST00000302328.7:c.1142T>C | ENSP00000307599.3:p.Ile381Thr | |
| ENST00000444237.2:c.1142T>C | ENSP00000408028.2:p.Ile381Thr | |
| ENST00000456224.7:c.1142T>C | ENSP00000416757.3:p.Ile381Thr | |
| NM_001287223.1:c.1142T>C | NP_001274152.1:p.Ile381Thr | |
| NM_014139.2:c.1142T>C | NP_054858.2:p.Ile381Thr | |
| XM_011533320.1:c.1142T>C | XP_011531622.1:p.Ile381Thr | |
| XM_011533321.1:c.479T>C | XP_011531623.1:p.Ile160Thr | |
| NM_001349253.1:c.1142T>C | NP_001336182.1:p.Ile381Thr | |
| XM_011533321.2:c.479T>C | XP_011531623.1:p.Ile160Thr | |
| XM_017005647.1:c.1517T>C | XP_016861136.1:p.Ile506Thr | |
| XM_017005648.1:c.1101+912T>C | XP_016861137.1:n.1101+912T>C | |
| XM_017005650.1:c.1142T>C | XP_016861139.1:p.Ile381Thr | |
| XM_017005651.1:c.869T>C | XP_016861140.1:p.Ile290Thr | |
| XM_017005652.1:c.1142T>C | XP_016861141.1:p.Ile381Thr | |
| NM_001349253.2:c.1142T>C MANE Select | NP_001336182.1:p.Ile381Thr | |
| NM_014139.3:c.1142T>C | NP_054858.2:p.Ile381Thr |