Linked Data
dbSNP Id:
rs758633209
ExAC:
22:50893418 C / T
gnomAD v2:
22-50893418-C-T
gnomAD v4:
22-50454989-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50454989C>T , CM000684.2:g.50454989C>T | GRCh38 |
| NC_000022.10:g.50893418C>T , CM000684.1:g.50893418C>T | GRCh37 |
| NC_000022.9:g.49240284C>T | NCBI36 |
| NG_041810.1:g.25083G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348911.11:c.4603+27G>A | ENSP00000252027.8:n.4603+27G>A | |
| ENST00000418590.4:c.313+27G>A | ENSP00000401538.2:n.313+27G>A | |
| ENST00000470434.2:n.1084+27G>A | ||
| ENST00000684986.1:c.4684+27G>A | ENSP00000509117.1:n.4684+27G>A | |
| ENST00000685180.1:n.2488+5545G>A | ||
| ENST00000685390.1:n.2649+27G>A | ||
| ENST00000685411.1:n.431+27G>A | ||
| ENST00000685592.1:c.915+27G>A | ||
| ENST00000685809.1:c.4594+27G>A | ENSP00000508863.1:n.4594+27G>A | |
| ENST00000686029.1:c.759+27G>A | ||
| ENST00000686191.1:n.3881+27G>A | ||
| ENST00000686222.1:c.*4103+27G>A | ENSP00000508737.1:n.*4103+27G>A | |
| ENST00000686321.1:c.777+27G>A | ||
| ENST00000686427.1:c.*1616+27G>A | ENSP00000510379.1:n.*1616+27G>A | |
| ENST00000686758.1:n.2451G>A | ||
| ENST00000686801.1:c.4669+27G>A | ENSP00000509915.1:n.4669+27G>A | |
| ENST00000686826.1:n.1000+27G>A | ||
| ENST00000687016.1:c.4582+27G>A | ENSP00000509074.1:n.4582+27G>A | |
| ENST00000687704.1:c.*2406+27G>A | ENSP00000510454.1:n.*2406+27G>A | |
| ENST00000688066.1:c.4681+27G>A | ENSP00000510782.1:n.4681+27G>A | |
| ENST00000688124.1:c.*3599+27G>A | ENSP00000510645.1:n.*3599+27G>A | |
| ENST00000688848.1:c.*4025+27G>A | ENSP00000509419.1:n.*4025+27G>A | |
| ENST00000688985.1:c.1682+27G>A | ENSP00000510477.1:n.1682+27G>A | |
| ENST00000689129.1:c.4606+27G>A | ENSP00000510414.1:n.4606+27G>A | |
| ENST00000689177.1:n.5953+27G>A | ||
| ENST00000689849.1:c.777+27G>A | ||
| ENST00000689981.1:c.4681+27G>A | ENSP00000509035.1:n.4681+27G>A | |
| ENST00000690369.1:n.4699+27G>A | ||
| ENST00000690590.1:n.1728+27G>A | ||
| ENST00000690990.1:c.4675+27G>A | ENSP00000510461.1:n.4675+27G>A | |
| ENST00000691233.1:c.4600+27G>A | ENSP00000509215.1:n.4600+27G>A | |
| ENST00000691306.1:c.779+27G>A | ||
| ENST00000691345.1:n.2302+1227G>A | ||
| ENST00000691792.1:c.4669+27G>A | ENSP00000509911.1:n.4669+27G>A | |
| ENST00000691959.1:n.5400+27G>A | ||
| ENST00000692844.1:n.1765+27G>A | ||
| ENST00000692946.1:c.777+27G>A | ||
| ENST00000693052.1:c.4699+27G>A | ENSP00000509558.1:n.4699+27G>A | |
| ENST00000693289.1:n.1840+27G>A | ||
| ENST00000693440.1:c.4678+27G>A | ENSP00000509462.1:n.4678+27G>A | |
| ENST00000693499.1:n.5633G>A | ||
| ENST00000693591.1:n.3445G>A | ||
| ENST00000380817.8:c.4681+27G>A MANE Select | ENSP00000370196.2:n.4681+27G>A | |
| ENST00000348911.10:c.4606+27G>A | ENSP00000252027.7:n.4606+27G>A | |
| ENST00000380817.7:c.4681+27G>A | ENSP00000370196.2:n.4681+27G>A | |
| ENST00000418590.3:c.281+27G>A | ||
| ENST00000470434.1:n.822+27G>A | ||
| NM_002972.3:c.4681+27G>A | NP_002963.2:n.4681+27G>A | |
| XM_005261931.1:c.4684+27G>A | XP_005261988.1:n.4684+27G>A | |
| XM_005261935.1:c.4603+27G>A | XP_005261992.1:n.4603+27G>A | |
| XM_011530707.1:c.4783+27G>A | XP_011529009.1:n.4783+27G>A | |
| XM_011530708.1:c.4735+27G>A | XP_011529010.1:n.4735+27G>A | |
| XM_011530709.1:c.4711+27G>A | XP_011529011.1:n.4711+27G>A | |
| XM_011530710.1:c.4708+27G>A | XP_011529012.1:n.4708+27G>A | |
| XM_011530711.1:c.4708+27G>A | XP_011529013.1:n.4708+27G>A | |
| XR_938344.1:n.4801+27G>A | ||
| NM_001365819.1:c.4606+27G>A | NP_001352748.1:n.4606+27G>A | |
| XM_005261935.2:c.4603+27G>A | XP_005261992.1:n.4603+27G>A | |
| XM_011530709.2:c.4711+27G>A | XP_011529011.1:n.4711+27G>A | |
| XM_011530710.2:c.4708+27G>A | XP_011529012.1:n.4708+27G>A | |
| XM_017028905.2:c.4633+27G>A | XP_016884394.1:n.4633+27G>A | |
| NM_002972.4:c.4681+27G>A MANE Select | NP_002963.2:n.4681+27G>A |