Linked Data
ClinVar Variation Id:
1361227
ClinVar RCV Id:
RCV001865138
dbSNP Id:
rs2061988155
gnomAD v3:
22-17182743-A-G
gnomAD v4:
22-17182743-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.17182743A>G , CM000684.2:g.17182743A>G | GRCh38 |
| NC_000022.10:g.17663633A>G , CM000684.1:g.17663633A>G | GRCh37 |
| NC_000022.9:g.16043633A>G | NCBI36 |
| NG_033943.1:g.44112T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330232.9:c.377T>C | ENSP00000332871.4:p.Ile126Thr | |
| ENST00000449907.8:c.974T>C | ENSP00000406443.2:p.Ile325Thr | |
| ENST00000469063.2:n.988T>C | ||
| ENST00000543038.2:c.1100T>C | ENSP00000442482.2:p.Ile367Thr | |
| ENST00000610390.5:c.740T>C | ENSP00000483418.1:p.Ile247Thr | |
| ENST00000648061.2:c.*76T>C | ENSP00000496894.1:n.*76T>C | |
| ENST00000649310.2:c.1100T>C | ENSP00000496839.2:p.Ile367Thr | |
| ENST00000649746.2:c.1100T>C | ENSP00000497913.2:p.Ile367Thr | |
| ENST00000649915.2:c.*2222T>C | ENSP00000497681.2:n.*2222T>C | |
| ENST00000696196.1:c.1100T>C | ENSP00000512479.1:p.Ile367Thr | |
| ENST00000696197.1:c.1100T>C | ENSP00000512480.1:p.Ile367Thr | |
| ENST00000696218.1:n.212T>C | ||
| ENST00000696220.1:c.329-3T>C | ENSP00000512486.1:n.329-3T>C | |
| ENST00000696221.1:c.347T>C | ENSP00000512487.1:p.Ile116Thr | |
| ENST00000696222.1:c.347T>C | ENSP00000512488.1:p.Ile116Thr | |
| ENST00000696223.1:c.347T>C | ENSP00000512489.1:p.Ile116Thr | |
| ENST00000696224.1:c.494T>C | ENSP00000512490.1:p.Ile165Thr | |
| ENST00000696225.1:c.1100T>C | ENSP00000512491.1:p.Ile367Thr | |
| ENST00000399837.8:c.1100T>C MANE Select | ENSP00000382731.2:p.Ile367Thr | |
| ENST00000449907.7:c.974T>C | ENSP00000406443.2:p.Ile325Thr | |
| ENST00000648061.1:c.*76T>C | ENSP00000496894.1:n.*76T>C | |
| ENST00000648668.1:n.538T>C | ||
| ENST00000649540.1:c.974T>C | ENSP00000497469.1:p.Ile325Thr | |
| ENST00000649915.1:c.2613T>C | ||
| ENST00000262607.3:c.1100T>C | ENSP00000262607.2:p.Ile367Thr | |
| ENST00000330232.8:c.377T>C | ENSP00000332871.4:p.Ile126Thr | |
| ENST00000399837.6:c.1100T>C | ENSP00000382731.2:p.Ile367Thr | |
| ENST00000399839.5:c.1100T>C | ENSP00000382733.1:p.Ile367Thr | |
| ENST00000449907.6:c.974T>C | ENSP00000406443.2:p.Ile325Thr | |
| ENST00000469063.1:n.408T>C | ||
| ENST00000610390.4:c.740T>C | ENSP00000483418.1:p.Ile247Thr | |
| NM_001282225.1:c.1100T>C | NP_001269154.1:p.Ile367Thr | |
| NM_001282226.1:c.1100T>C | NP_001269155.1:p.Ile367Thr | |
| NM_001282227.1:c.974T>C | NP_001269156.1:p.Ile325Thr | |
| NM_001282228.1:c.974T>C | NP_001269157.1:p.Ile325Thr | |
| NM_001282229.1:c.740T>C | NP_001269158.1:p.Ile247Thr | |
| NM_177405.2:c.377T>C | NP_803124.1:p.Ile126Thr | |
| XM_006724080.2:c.416T>C | XP_006724143.1:p.Ile139Thr | |
| XM_011546133.1:c.1100T>C | XP_011544435.1:p.Ile367Thr | |
| NM_001282225.2:c.1100T>C MANE Select | NP_001269154.1:p.Ile367Thr | |
| XM_006724080.3:c.416T>C | XP_006724143.1:p.Ile139Thr | |
| XM_011546133.2:c.1100T>C | XP_011544435.1:p.Ile367Thr | |
| NM_001282226.2:c.1100T>C | NP_001269155.1:p.Ile367Thr | |
| NM_001282227.2:c.974T>C | NP_001269156.1:p.Ile325Thr | |
| NM_001282228.2:c.974T>C | NP_001269157.1:p.Ile325Thr | |
| NM_177405.3:c.377T>C | NP_803124.1:p.Ile126Thr | |
| NM_001282229.2:c.740T>C | NP_001269158.1:p.Ile247Thr |