Linked Data
dbSNP Id:
rs371158908
ExAC:
4:175414383 A / G
gnomAD v2:
4-175414383-A-G
gnomAD v3:
4-174493232-A-G
gnomAD v4:
4-174493232-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.174493232A>G , CM000666.2:g.174493232A>G | GRCh38 |
| NC_000004.11:g.175414383A>G , CM000666.1:g.175414383A>G | GRCh37 |
| NC_000004.10:g.175650958A>G | NCBI36 |
| NG_011689.1:g.34410T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296522.11:c.581T>C MANE Select | ENSP00000296522.6:p.Ile194Thr | |
| ENST00000296521.11:c.499-1138T>C | ENSP00000296521.7:n.499-1138T>C | |
| ENST00000296522.10:c.581T>C | ENSP00000296522.6:p.Ile194Thr | |
| ENST00000422112.6:c.377T>C | ENSP00000398720.2:p.Ile126Thr | |
| ENST00000506910.5:c.218T>C | ENSP00000423066.1:p.Ile73Thr | |
| ENST00000508330.5:c.*210T>C | ENSP00000425741.1:n.*210T>C | |
| ENST00000509512.1:n.230T>C | ||
| ENST00000510835.5:c.*343T>C | ENSP00000427699.1:n.*343T>C | |
| ENST00000510901.5:c.218T>C | ENSP00000422418.1:p.Ile73Thr | |
| ENST00000511499.5:n.365T>C | ||
| ENST00000514584.5:c.218T>C | ENSP00000423110.1:p.Ile73Thr | |
| ENST00000541923.5:c.218T>C | ENSP00000438017.1:p.Ile73Thr | |
| ENST00000542498.5:c.422-1138T>C | ENSP00000443644.1:n.422-1138T>C | |
| NM_000860.5:c.581T>C | NP_000851.2:p.Ile194Thr | |
| NM_001145816.2:c.499-1138T>C | NP_001139288.1:n.499-1138T>C | |
| NM_001256301.1:c.218T>C | NP_001243230.1:p.Ile73Thr | |
| NM_001256305.1:c.422-1138T>C | NP_001243234.1:n.422-1138T>C | |
| NM_001256306.1:c.377T>C | NP_001243235.1:p.Ile126Thr | |
| NM_001256307.1:c.218T>C | NP_001243236.1:p.Ile73Thr | |
| NM_000860.6:c.581T>C MANE Select | NP_000851.2:p.Ile194Thr | |
| NM_001145816.3:c.499-1138T>C | NP_001139288.1:n.499-1138T>C | |
| NM_001256305.2:c.422-1138T>C | NP_001243234.1:n.422-1138T>C | |
| NM_001256306.2:c.377T>C | NP_001243235.1:p.Ile126Thr | |
| NM_001256307.2:c.218T>C | NP_001243236.1:p.Ile73Thr |