Linked Data
dbSNP Id:
rs771043807
ExAC:
22:50893452 A / G
gnomAD v2:
22-50893452-A-G
gnomAD v4:
22-50455023-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50455023A>G , CM000684.2:g.50455023A>G | GRCh38 |
| NC_000022.10:g.50893452A>G , CM000684.1:g.50893452A>G | GRCh37 |
| NC_000022.9:g.49240318A>G | NCBI36 |
| NG_041810.1:g.25049T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348911.11:c.4596T>C | ENSP00000252027.8:p.Ile1532= | |
| ENST00000418590.4:c.306T>C | ENSP00000401538.2:p.Ile102= | |
| ENST00000470434.2:n.1077T>C | ||
| ENST00000684986.1:c.4677T>C | ENSP00000509117.1:p.Ile1559= | |
| ENST00000685180.1:n.2488+5511T>C | ||
| ENST00000685390.1:n.2642T>C | ||
| ENST00000685411.1:n.424T>C | ||
| ENST00000685592.1:c.908T>C | ||
| ENST00000685809.1:c.4587T>C | ENSP00000508863.1:p.Ile1529= | |
| ENST00000686029.1:c.752T>C | ||
| ENST00000686191.1:n.3874T>C | ||
| ENST00000686222.1:c.*4096T>C | ENSP00000508737.1:n.*4096T>C | |
| ENST00000686321.1:c.770T>C | ||
| ENST00000686427.1:c.*1609T>C | ENSP00000510379.1:n.*1609T>C | |
| ENST00000686758.1:n.2417T>C | ||
| ENST00000686801.1:c.4662T>C | ENSP00000509915.1:p.Ile1554= | |
| ENST00000686826.1:n.993T>C | ||
| ENST00000687016.1:c.4575T>C | ENSP00000509074.1:p.Ile1525= | |
| ENST00000687704.1:c.*2399T>C | ENSP00000510454.1:n.*2399T>C | |
| ENST00000688066.1:c.4674T>C | ENSP00000510782.1:p.Ile1558= | |
| ENST00000688124.1:c.*3592T>C | ENSP00000510645.1:n.*3592T>C | |
| ENST00000688848.1:c.*4018T>C | ENSP00000509419.1:n.*4018T>C | |
| ENST00000688985.1:c.1675T>C | ENSP00000510477.1:n.1675T>C | |
| ENST00000689129.1:c.4599T>C | ENSP00000510414.1:p.Ile1533= | |
| ENST00000689177.1:n.5946T>C | ||
| ENST00000689849.1:c.770T>C | ||
| ENST00000689981.1:c.4674T>C | ENSP00000509035.1:p.Ile1558= | |
| ENST00000690369.1:n.4692T>C | ||
| ENST00000690590.1:n.1721T>C | ||
| ENST00000690990.1:c.4668T>C | ENSP00000510461.1:p.Ile1556= | |
| ENST00000691233.1:c.4593T>C | ENSP00000509215.1:p.Ile1531= | |
| ENST00000691306.1:c.772T>C | ||
| ENST00000691345.1:n.2302+1193T>C | ||
| ENST00000691792.1:c.4662T>C | ENSP00000509911.1:p.Ile1554= | |
| ENST00000691959.1:n.5393T>C | ||
| ENST00000692844.1:n.1758T>C | ||
| ENST00000692946.1:c.770T>C | ||
| ENST00000693052.1:c.4692T>C | ENSP00000509558.1:p.Ile1564= | |
| ENST00000693289.1:n.1833T>C | ||
| ENST00000693440.1:c.4671T>C | ENSP00000509462.1:p.Ile1557= | |
| ENST00000693499.1:n.5599T>C | ||
| ENST00000693591.1:n.3411T>C | ||
| ENST00000380817.8:c.4674T>C MANE Select | ENSP00000370196.2:p.Ile1558= | |
| ENST00000348911.10:c.4599T>C | ENSP00000252027.7:p.Ile1533= | |
| ENST00000380817.7:c.4674T>C | ENSP00000370196.2:p.Ile1558= | |
| ENST00000418590.3:c.274T>C | ||
| ENST00000470434.1:n.815T>C | ||
| NM_002972.3:c.4674T>C | NP_002963.2:p.Ile1558= | |
| XM_005261931.1:c.4677T>C | XP_005261988.1:p.Ile1559= | |
| XM_005261935.1:c.4596T>C | XP_005261992.1:p.Ile1532= | |
| XM_011530707.1:c.4776T>C | XP_011529009.1:p.Ile1592= | |
| XM_011530708.1:c.4728T>C | XP_011529010.1:p.Ile1576= | |
| XM_011530709.1:c.4704T>C | XP_011529011.1:p.Ile1568= | |
| XM_011530710.1:c.4701T>C | XP_011529012.1:p.Ile1567= | |
| XM_011530711.1:c.4701T>C | XP_011529013.1:p.Ile1567= | |
| XR_938344.1:n.4794T>C | ||
| NM_001365819.1:c.4599T>C | NP_001352748.1:p.Ile1533= | |
| XM_005261935.2:c.4596T>C | XP_005261992.1:p.Ile1532= | |
| XM_011530709.2:c.4704T>C | XP_011529011.1:p.Ile1568= | |
| XM_011530710.2:c.4701T>C | XP_011529012.1:p.Ile1567= | |
| XM_017028905.2:c.4626T>C | XP_016884394.1:p.Ile1542= | |
| NM_002972.4:c.4674T>C MANE Select | NP_002963.2:p.Ile1558= |