Linked Data
dbSNP Id:
rs774398412
ExAC:
22:50893215 C / T
gnomAD v2:
22-50893215-C-T
gnomAD v3:
22-50454786-C-T
gnomAD v4:
22-50454786-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50454786C>T , CM000684.2:g.50454786C>T | GRCh38 |
| NC_000022.10:g.50893215C>T , CM000684.1:g.50893215C>T | GRCh37 |
| NC_000022.9:g.49240081C>T | NCBI36 |
| NG_041810.1:g.25286G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348911.11:c.4734+28G>A | ENSP00000252027.8:n.4734+28G>A | |
| ENST00000418590.4:c.444+28G>A | ENSP00000401538.2:n.444+28G>A | |
| ENST00000470434.2:n.1215+28G>A | ||
| ENST00000684986.1:c.4815+28G>A | ENSP00000509117.1:n.4815+28G>A | |
| ENST00000685180.1:n.2488+5748G>A | ||
| ENST00000685390.1:n.2780+28G>A | ||
| ENST00000685411.1:n.562+28G>A | ||
| ENST00000685592.1:c.1046+28G>A | ||
| ENST00000685809.1:c.4725+28G>A | ENSP00000508863.1:n.4725+28G>A | |
| ENST00000686191.1:n.4012+28G>A | ||
| ENST00000686222.1:c.*4234+28G>A | ENSP00000508737.1:n.*4234+28G>A | |
| ENST00000686321.1:c.908+28G>A | ||
| ENST00000686427.1:c.*1747+28G>A | ENSP00000510379.1:n.*1747+28G>A | |
| ENST00000686758.1:n.2626+28G>A | ||
| ENST00000686801.1:c.4800+28G>A | ENSP00000509915.1:n.4800+28G>A | |
| ENST00000686826.1:n.1131+28G>A | ||
| ENST00000687016.1:c.4713+28G>A | ENSP00000509074.1:n.4713+28G>A | |
| ENST00000687704.1:c.*2565G>A | ENSP00000510454.1:n.*2565G>A | |
| ENST00000688066.1:c.4812+28G>A | ENSP00000510782.1:n.4812+28G>A | |
| ENST00000688124.1:c.*3730+28G>A | ENSP00000510645.1:n.*3730+28G>A | |
| ENST00000688848.1:c.*4156+28G>A | ENSP00000509419.1:n.*4156+28G>A | |
| ENST00000688985.1:c.1813+28G>A | ENSP00000510477.1:n.1813+28G>A | |
| ENST00000689129.1:c.4737+28G>A | ENSP00000510414.1:n.4737+28G>A | |
| ENST00000689177.1:n.6084+28G>A | ||
| ENST00000689849.1:c.908+28G>A | ||
| ENST00000689981.1:c.4812+28G>A | ENSP00000509035.1:n.4812+28G>A | |
| ENST00000690369.1:n.4830+28G>A | ||
| ENST00000690590.1:n.1859+28G>A | ||
| ENST00000690990.1:c.4806+28G>A | ENSP00000510461.1:n.4806+28G>A | |
| ENST00000691233.1:c.4731+28G>A | ENSP00000509215.1:n.4731+28G>A | |
| ENST00000691306.1:c.893+28G>A | ||
| ENST00000691345.1:n.2302+1430G>A | ||
| ENST00000691792.1:c.4800+28G>A | ENSP00000509911.1:n.4800+28G>A | |
| ENST00000691959.1:n.5531+28G>A | ||
| ENST00000692844.1:n.1896+28G>A | ||
| ENST00000692946.1:c.908+28G>A | ||
| ENST00000693052.1:c.4830+28G>A | ENSP00000509558.1:n.4830+28G>A | |
| ENST00000693289.1:n.1971+28G>A | ||
| ENST00000693440.1:c.4809+28G>A | ENSP00000509462.1:n.4809+28G>A | |
| ENST00000693499.1:n.5808+28G>A | ||
| ENST00000693591.1:n.3620+28G>A | ||
| ENST00000380817.8:c.4812+28G>A MANE Select | ENSP00000370196.2:n.4812+28G>A | |
| ENST00000348911.10:c.4737+28G>A | ENSP00000252027.7:n.4737+28G>A | |
| ENST00000380817.7:c.4812+28G>A | ENSP00000370196.2:n.4812+28G>A | |
| ENST00000418590.3:c.412+28G>A | ||
| ENST00000470434.1:n.953+28G>A | ||
| NM_002972.3:c.4812+28G>A | NP_002963.2:n.4812+28G>A | |
| XM_005261931.1:c.4815+28G>A | XP_005261988.1:n.4815+28G>A | |
| XM_005261935.1:c.4734+28G>A | XP_005261992.1:n.4734+28G>A | |
| XM_011530707.1:c.4914+28G>A | XP_011529009.1:n.4914+28G>A | |
| XM_011530708.1:c.4866+28G>A | XP_011529010.1:n.4866+28G>A | |
| XM_011530709.1:c.4842+28G>A | XP_011529011.1:n.4842+28G>A | |
| XM_011530710.1:c.4839+28G>A | XP_011529012.1:n.4839+28G>A | |
| XM_011530711.1:c.4839+28G>A | XP_011529013.1:n.4839+28G>A | |
| XR_938344.1:n.4932+28G>A | ||
| NM_001365819.1:c.4737+28G>A | NP_001352748.1:n.4737+28G>A | |
| XM_005261935.2:c.4734+28G>A | XP_005261992.1:n.4734+28G>A | |
| XM_011530709.2:c.4842+28G>A | XP_011529011.1:n.4842+28G>A | |
| XM_011530710.2:c.4839+28G>A | XP_011529012.1:n.4839+28G>A | |
| XM_017028905.2:c.4764+28G>A | XP_016884394.1:n.4764+28G>A | |
| NM_002972.4:c.4812+28G>A MANE Select | NP_002963.2:n.4812+28G>A |