Linked Data
ClinVar Variation Id:
916190
dbSNP Id:
rs200471909
ExAC:
22:50893514 C / T
gnomAD v2:
22-50893514-C-T
gnomAD v3:
22-50455085-C-T
gnomAD v4:
22-50455085-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50455085C>T , CM000684.2:g.50455085C>T | GRCh38 |
| NC_000022.10:g.50893514C>T , CM000684.1:g.50893514C>T | GRCh37 |
| NC_000022.9:g.49240380C>T | NCBI36 |
| NG_041810.1:g.24987G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348911.11:c.4534G>A | ENSP00000252027.8:p.Gly1512Ser | |
| ENST00000418590.4:c.244G>A | ENSP00000401538.2:p.Gly82Ser | |
| ENST00000470434.2:n.1015G>A | ||
| ENST00000684986.1:c.4615G>A | ENSP00000509117.1:p.Gly1539Ser | |
| ENST00000685180.1:n.2488+5449G>A | ||
| ENST00000685390.1:n.2580G>A | ||
| ENST00000685411.1:n.362G>A | ||
| ENST00000685592.1:c.846G>A | ||
| ENST00000685809.1:c.4525G>A | ENSP00000508863.1:p.Gly1509Ser | |
| ENST00000686029.1:c.690G>A | ||
| ENST00000686191.1:n.3812G>A | ||
| ENST00000686222.1:c.*4034G>A | ENSP00000508737.1:n.*4034G>A | |
| ENST00000686321.1:c.708G>A | ||
| ENST00000686427.1:c.*1547G>A | ENSP00000510379.1:n.*1547G>A | |
| ENST00000686758.1:n.2355G>A | ||
| ENST00000686801.1:c.4600G>A | ENSP00000509915.1:p.Gly1534Ser | |
| ENST00000686826.1:n.931G>A | ||
| ENST00000687016.1:c.4513G>A | ENSP00000509074.1:p.Gly1505Ser | |
| ENST00000687704.1:c.*2337G>A | ENSP00000510454.1:n.*2337G>A | |
| ENST00000688066.1:c.4612G>A | ENSP00000510782.1:p.Gly1538Ser | |
| ENST00000688124.1:c.*3530G>A | ENSP00000510645.1:n.*3530G>A | |
| ENST00000688848.1:c.*3956G>A | ENSP00000509419.1:n.*3956G>A | |
| ENST00000688985.1:c.1613G>A | ENSP00000510477.1:n.1613G>A | |
| ENST00000689129.1:c.4537G>A | ENSP00000510414.1:p.Gly1513Ser | |
| ENST00000689177.1:n.5884G>A | ||
| ENST00000689849.1:c.708G>A | ||
| ENST00000689981.1:c.4612G>A | ENSP00000509035.1:p.Gly1538Ser | |
| ENST00000690369.1:n.4630G>A | ||
| ENST00000690590.1:n.1659G>A | ||
| ENST00000690990.1:c.4606G>A | ENSP00000510461.1:p.Gly1536Ser | |
| ENST00000691233.1:c.4531G>A | ENSP00000509215.1:p.Gly1511Ser | |
| ENST00000691306.1:c.710G>A | ||
| ENST00000691345.1:n.2302+1131G>A | ||
| ENST00000691792.1:c.4600G>A | ENSP00000509911.1:p.Gly1534Ser | |
| ENST00000691959.1:n.5331G>A | ||
| ENST00000692844.1:n.1696G>A | ||
| ENST00000692946.1:c.708G>A | ||
| ENST00000693052.1:c.4630G>A | ENSP00000509558.1:p.Gly1544Ser | |
| ENST00000693289.1:n.1771G>A | ||
| ENST00000693440.1:c.4609G>A | ENSP00000509462.1:p.Gly1537Ser | |
| ENST00000693499.1:n.5537G>A | ||
| ENST00000693591.1:n.3349G>A | ||
| ENST00000380817.8:c.4612G>A MANE Select | ENSP00000370196.2:p.Gly1538Ser | |
| ENST00000348911.10:c.4537G>A | ENSP00000252027.7:p.Gly1513Ser | |
| ENST00000380817.7:c.4612G>A | ENSP00000370196.2:p.Gly1538Ser | |
| ENST00000418590.3:c.212G>A | ||
| ENST00000470434.1:n.753G>A | ||
| NM_002972.3:c.4612G>A | NP_002963.2:p.Gly1538Ser | |
| XM_005261931.1:c.4615G>A | XP_005261988.1:p.Gly1539Ser | |
| XM_005261935.1:c.4534G>A | XP_005261992.1:p.Gly1512Ser | |
| XM_011530707.1:c.4714G>A | XP_011529009.1:p.Gly1572Ser | |
| XM_011530708.1:c.4666G>A | XP_011529010.1:p.Gly1556Ser | |
| XM_011530709.1:c.4642G>A | XP_011529011.1:p.Gly1548Ser | |
| XM_011530710.1:c.4639G>A | XP_011529012.1:p.Gly1547Ser | |
| XM_011530711.1:c.4639G>A | XP_011529013.1:p.Gly1547Ser | |
| XR_938344.1:n.4732G>A | ||
| NM_001365819.1:c.4537G>A | NP_001352748.1:p.Gly1513Ser | |
| XM_005261935.2:c.4534G>A | XP_005261992.1:p.Gly1512Ser | |
| XM_011530709.2:c.4642G>A | XP_011529011.1:p.Gly1548Ser | |
| XM_011530710.2:c.4639G>A | XP_011529012.1:p.Gly1547Ser | |
| XM_017028905.2:c.4564G>A | XP_016884394.1:p.Gly1522Ser | |
| NM_002972.4:c.4612G>A MANE Select | NP_002963.2:p.Gly1538Ser |