Linked Data
ClinVar Variation Id:
375247
dbSNP Id:
rs146597836
ExAC:
22:17670877 C / T
gnomAD v2:
22-17670877-C-T
gnomAD v3:
22-17189987-C-T
gnomAD v4:
22-17189987-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.17189987C>T , CM000684.2:g.17189987C>T | GRCh38 |
| NC_000022.10:g.17670877C>T , CM000684.1:g.17670877C>T | GRCh37 |
| NC_000022.9:g.16050877C>T | NCBI36 |
| NG_033943.1:g.36868G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330232.9:c.204G>A | ENSP00000332871.4:p.Met68Ile | |
| ENST00000449907.8:c.801G>A | ENSP00000406443.2:p.Met267Ile | |
| ENST00000543038.2:c.927G>A | ENSP00000442482.2:p.Met309Ile | |
| ENST00000610390.5:c.567G>A | ENSP00000483418.1:p.Met189Ile | |
| ENST00000648061.2:c.159-1540G>A | ENSP00000496894.1:n.159-1540G>A | |
| ENST00000649310.2:c.927G>A | ENSP00000496839.2:p.Met309Ile | |
| ENST00000649746.2:c.927G>A | ENSP00000497913.2:p.Met309Ile | |
| ENST00000649915.2:c.*2049G>A | ENSP00000497681.2:n.*2049G>A | |
| ENST00000696189.1:n.228G>A | ||
| ENST00000696196.1:c.927G>A | ENSP00000512479.1:p.Met309Ile | |
| ENST00000696197.1:c.927G>A | ENSP00000512480.1:p.Met309Ile | |
| ENST00000696220.1:c.174G>A | ENSP00000512486.1:p.Met58Ile | |
| ENST00000696221.1:c.174G>A | ENSP00000512487.1:p.Met58Ile | |
| ENST00000696222.1:c.174G>A | ENSP00000512488.1:p.Met58Ile | |
| ENST00000696223.1:c.174G>A | ENSP00000512489.1:p.Met58Ile | |
| ENST00000696224.1:c.321G>A | ENSP00000512490.1:p.Met107Ile | |
| ENST00000696225.1:c.927G>A | ENSP00000512491.1:p.Met309Ile | |
| ENST00000399837.8:c.927G>A MANE Select | ENSP00000382731.2:p.Met309Ile | |
| ENST00000449907.7:c.801G>A | ENSP00000406443.2:p.Met267Ile | |
| ENST00000648061.1:c.159-1540G>A | ENSP00000496894.1:n.159-1540G>A | |
| ENST00000648668.1:n.365G>A | ||
| ENST00000649540.1:c.801G>A | ENSP00000497469.1:p.Met267Ile | |
| ENST00000649915.1:c.2440G>A | ||
| ENST00000262607.3:c.927G>A | ENSP00000262607.2:p.Met309Ile | |
| ENST00000330232.8:c.204G>A | ENSP00000332871.4:p.Met68Ile | |
| ENST00000399837.6:c.927G>A | ENSP00000382731.2:p.Met309Ile | |
| ENST00000399839.5:c.927G>A | ENSP00000382733.1:p.Met309Ile | |
| ENST00000449907.6:c.801G>A | ENSP00000406443.2:p.Met267Ile | |
| ENST00000480276.1:n.367G>A | ||
| ENST00000610390.4:c.567G>A | ENSP00000483418.1:p.Met189Ile | |
| NM_001282225.1:c.927G>A | NP_001269154.1:p.Met309Ile | |
| NM_001282226.1:c.927G>A | NP_001269155.1:p.Met309Ile | |
| NM_001282227.1:c.801G>A | NP_001269156.1:p.Met267Ile | |
| NM_001282228.1:c.801G>A | NP_001269157.1:p.Met267Ile | |
| NM_001282229.1:c.567G>A | NP_001269158.1:p.Met189Ile | |
| NM_177405.2:c.204G>A | NP_803124.1:p.Met68Ile | |
| XM_006724080.2:c.243G>A | XP_006724143.1:p.Met81Ile | |
| XM_011546133.1:c.927G>A | XP_011544435.1:p.Met309Ile | |
| NM_001282225.2:c.927G>A MANE Select | NP_001269154.1:p.Met309Ile | |
| XM_006724080.3:c.243G>A | XP_006724143.1:p.Met81Ile | |
| XM_011546133.2:c.927G>A | XP_011544435.1:p.Met309Ile | |
| NM_001282226.2:c.927G>A | NP_001269155.1:p.Met309Ile | |
| NM_001282227.2:c.801G>A | NP_001269156.1:p.Met267Ile | |
| NM_001282228.2:c.801G>A | NP_001269157.1:p.Met267Ile | |
| NM_177405.3:c.204G>A | NP_803124.1:p.Met68Ile | |
| NM_001282229.2:c.567G>A | NP_001269158.1:p.Met189Ile |