Linked Data
dbSNP Id:
rs749133142
ExAC:
4:175414353 A / G
gnomAD v2:
4-175414353-A-G
gnomAD v4:
4-174493202-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.174493202A>G , CM000666.2:g.174493202A>G | GRCh38 |
| NC_000004.11:g.175414353A>G , CM000666.1:g.175414353A>G | GRCh37 |
| NC_000004.10:g.175650928A>G | NCBI36 |
| NG_011689.1:g.34440T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296522.11:c.611T>C MANE Select | ENSP00000296522.6:p.Ile204Thr | |
| ENST00000296521.11:c.499-1108T>C | ENSP00000296521.7:n.499-1108T>C | |
| ENST00000296522.10:c.611T>C | ENSP00000296522.6:p.Ile204Thr | |
| ENST00000422112.6:c.407T>C | ENSP00000398720.2:p.Ile136Thr | |
| ENST00000506910.5:c.248T>C | ENSP00000423066.1:p.Ile83Thr | |
| ENST00000508330.5:c.*240T>C | ENSP00000425741.1:n.*240T>C | |
| ENST00000509512.1:n.260T>C | ||
| ENST00000510835.5:c.*373T>C | ENSP00000427699.1:n.*373T>C | |
| ENST00000510901.5:c.248T>C | ENSP00000422418.1:p.Ile83Thr | |
| ENST00000511499.5:n.395T>C | ||
| ENST00000514584.5:c.248T>C | ENSP00000423110.1:p.Ile83Thr | |
| ENST00000541923.5:c.248T>C | ENSP00000438017.1:p.Ile83Thr | |
| ENST00000542498.5:c.422-1108T>C | ENSP00000443644.1:n.422-1108T>C | |
| NM_000860.5:c.611T>C | NP_000851.2:p.Ile204Thr | |
| NM_001145816.2:c.499-1108T>C | NP_001139288.1:n.499-1108T>C | |
| NM_001256301.1:c.248T>C | NP_001243230.1:p.Ile83Thr | |
| NM_001256305.1:c.422-1108T>C | NP_001243234.1:n.422-1108T>C | |
| NM_001256306.1:c.407T>C | NP_001243235.1:p.Ile136Thr | |
| NM_001256307.1:c.248T>C | NP_001243236.1:p.Ile83Thr | |
| NM_000860.6:c.611T>C MANE Select | NP_000851.2:p.Ile204Thr | |
| NM_001145816.3:c.499-1108T>C | NP_001139288.1:n.499-1108T>C | |
| NM_001256305.2:c.422-1108T>C | NP_001243234.1:n.422-1108T>C | |
| NM_001256306.2:c.407T>C | NP_001243235.1:p.Ile136Thr | |
| NM_001256307.2:c.248T>C | NP_001243236.1:p.Ile83Thr |