Linked Data
dbSNP Id:
rs753545286
ExAC:
19:1106437 C / G
gnomAD v2:
19-1106437-C-G
gnomAD v3:
19-1106438-C-G
gnomAD v4:
19-1106438-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1106438C>G , CM000681.2:g.1106438C>G | GRCh38 |
| NC_000019.9:g.1106437C>G , CM000681.1:g.1106437C>G | GRCh37 |
| NC_000019.8:g.1057437C>G | NCBI36 |
| NG_050621.1:g.7513C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585362.7:c.651C>G | ENSP00000473614.3:p.Tyr217Ter | |
| ENST00000593032.6:c.520C>G | ENSP00000465828.4:p.Arg174Gly | |
| ENST00000706713.1:c.534C>G | ENSP00000516510.1:p.Tyr178Ter | |
| ENST00000706714.1:c.520C>G | ENSP00000516511.1:p.Arg174Gly | |
| ENST00000706715.1:c.156C>G | ENSP00000516512.1:p.Tyr52Ter | |
| ENST00000354171.13:c.540C>G MANE Select | ENSP00000346103.7:p.Tyr180Ter | |
| ENST00000589115.6:c.515C>G | ENSP00000466872.3:p.Thr172Arg | |
| ENST00000354171.12:c.540C>G | ENSP00000346103.7:p.Tyr180Ter | |
| ENST00000585480.1:c.273C>G | ENSP00000467900.1:p.Tyr91Ter | |
| ENST00000587648.5:c.420C>G | ENSP00000468349.1:p.Tyr140Ter | |
| ENST00000588919.5:c.481C>G | ENSP00000464989.3:p.Arg161Gly | |
| ENST00000589115.5:c.515C>G | ENSP00000466872.2:p.Thr172Arg | |
| ENST00000592940.2:n.911C>G | ||
| ENST00000593032.5:c.520C>G | ENSP00000465828.3:p.Arg174Gly | |
| ENST00000611653.4:c.459C>G | ENSP00000483655.1:p.Tyr153Ter | |
| ENST00000616066.4:c.537C>G | ENSP00000485000.1:p.Tyr179Ter | |
| ENST00000622390.4:c.648C>G | ENSP00000477503.1:p.Tyr216Ter | |
| NM_001039847.2:c.562C>G | NP_001034936.1:p.Arg188Gly | |
| NM_001039848.2:c.651C>G | NP_001034937.1:p.Tyr217Ter | |
| NM_002085.4:c.540C>G | NP_002076.2:p.Tyr180Ter | |
| NM_001039848.3:c.651C>G | NP_001034937.1:p.Tyr217Ter | |
| NM_001039847.3:c.562C>G | NP_001034936.1:p.Arg188Gly | |
| NM_001039848.4:c.651C>G | NP_001034937.1:p.Tyr217Ter | |
| NM_001367832.1:c.459C>G | NP_001354761.1:p.Tyr153Ter | |
| NM_002085.5:c.540C>G MANE Select | NP_002076.2:p.Tyr180Ter |