Linked Data
ClinVar Variation Id:
525202
ClinVar RCV Id:
RCV000629249
dbSNP Id:
rs148117486
ExAC:
4:2822378 A / G
gnomAD v2:
4-2822378-A-G
gnomAD v3:
4-2820651-A-G
gnomAD v4:
4-2820651-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.2820651A>G , CM000666.2:g.2820651A>G | GRCh38 |
| NC_000004.11:g.2822378A>G , CM000666.1:g.2822378A>G | GRCh37 |
| NC_000004.10:g.2792176A>G | NCBI36 |
| NG_011609.1:g.32629A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435136.8:c.118A>G | ENSP00000403231.3:p.Met40Val | |
| ENST00000503393.8:c.34A>G MANE Select | ENSP00000422168.3:p.Met12Val | |
| ENST00000511747.6:c.205A>G | ENSP00000424846.2:p.Met69Val | |
| ENST00000356331.9:c.34A>G | ENSP00000348685.5:p.Met12Val | |
| ENST00000435136.6:c.34A>G | ENSP00000403231.2:p.Met12Val | |
| ENST00000442312.6:c.118A>G | ENSP00000388152.2:p.Met40Val | |
| ENST00000452765.6:c.34A>G | ENSP00000409746.2:p.Met12Val | |
| ENST00000502260.5:c.34A>G | ENSP00000425537.1:p.Met12Val | |
| ENST00000503219.5:c.34A>G | ENSP00000422796.1:p.Met12Val | |
| ENST00000503393.6:c.205A>G | ENSP00000422168.2:p.Met69Val | |
| ENST00000504294.5:c.34A>G | ENSP00000423275.1:p.Met12Val | |
| ENST00000508385.5:c.34A>G | ENSP00000424917.1:p.Met12Val | |
| ENST00000509677.5:n.393A>G | ||
| ENST00000510074.5:n.142A>G | ||
| ENST00000511185.5:n.215A>G | ||
| ENST00000511237.5:n.142A>G | ||
| ENST00000511663.5:n.89A>G | ||
| ENST00000511747.5:c.34A>G | ENSP00000424846.1:p.Met12Val | |
| ENST00000512014.5:c.34A>G | ENSP00000424105.1:p.Met12Val | |
| ENST00000512131.5:n.105A>G | ||
| ENST00000513020.5:c.34A>G | ENSP00000424072.1:p.Met12Val | |
| ENST00000513095.5:c.34A>G | ENSP00000423823.1:p.Met12Val | |
| ENST00000515737.5:c.34A>G | ENSP00000422605.1:p.Met12Val | |
| NM_001122681.1:c.34A>G | NP_001116153.1:p.Met12Val | |
| NM_001145855.1:c.118A>G | NP_001139327.1:p.Met40Val | |
| NM_001145856.1:c.205A>G | NP_001139328.1:p.Met69Val | |
| NM_003023.4:c.34A>G | NP_003014.3:p.Met12Val | |
| XM_005247998.3:c.43A>G | XP_005248055.1:p.Met15Val | |
| XM_005247999.3:c.34A>G | XP_005248056.1:p.Met12Val | |
| XM_011513547.1:c.205A>G | XP_011511849.1:p.Met69Val | |
| XM_011513548.1:c.34A>G | XP_011511850.1:p.Met12Val | |
| XM_011513549.1:c.34A>G | XP_011511851.1:p.Met12Val | |
| XM_011513550.1:c.34A>G | XP_011511852.1:p.Met12Val | |
| XM_011513551.1:c.34A>G | XP_011511853.1:p.Met12Val | |
| XM_011513553.1:c.-725A>G | XP_011511855.1:n.-725A>G | |
| XM_011513554.1:c.34A>G | XP_011511856.1:p.Met12Val | |
| XM_011513555.1:c.34A>G | XP_011511857.1:p.Met12Val | |
| XM_011513556.1:c.34A>G | XP_011511858.1:p.Met12Val | |
| XR_924990.1:n.38A>G | ||
| NM_001122681.2:c.34A>G MANE Select | NP_001116153.1:p.Met12Val | |
| NM_001145855.2:c.118A>G | NP_001139327.1:p.Met40Val | |
| NM_001145856.2:c.205A>G | NP_001139328.1:p.Met69Val |