Linked Data
ClinVar Variation Id:
440252
dbSNP Id:
rs202156491
ExAC:
22:50898827 G / A
gnomAD v2:
22-50898827-G-A
gnomAD v3:
22-50460398-G-A
gnomAD v4:
22-50460398-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50460398G>A , CM000684.2:g.50460398G>A | GRCh38 |
| NC_000022.10:g.50898827G>A , CM000684.1:g.50898827G>A | GRCh37 |
| NC_000022.9:g.49245693G>A | NCBI36 |
| NG_041810.1:g.19674C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348911.11:c.3157C>T | ENSP00000252027.8:p.Arg1053Trp | |
| ENST00000684986.1:c.3160C>T | ENSP00000509117.1:p.Arg1054Trp | |
| ENST00000685180.1:n.2488+136C>T | ||
| ENST00000685386.1:c.1000C>T | ENSP00000510338.1:p.Arg334Trp | |
| ENST00000685390.1:n.1400C>T | ||
| ENST00000685809.1:c.3148C>T | ENSP00000508863.1:p.Arg1050Trp | |
| ENST00000686222.1:c.*2579C>T | ENSP00000508737.1:n.*2579C>T | |
| ENST00000686427.1:c.*170C>T | ENSP00000510379.1:n.*170C>T | |
| ENST00000686801.1:c.3145C>T | ENSP00000509915.1:p.Arg1049Trp | |
| ENST00000687016.1:c.3136C>T | ENSP00000509074.1:p.Arg1046Trp | |
| ENST00000687704.1:c.*971C>T | ENSP00000510454.1:n.*971C>T | |
| ENST00000688066.1:c.3157C>T | ENSP00000510782.1:p.Arg1053Trp | |
| ENST00000688124.1:c.*2151C>T | ENSP00000510645.1:n.*2151C>T | |
| ENST00000688848.1:c.*2579C>T | ENSP00000509419.1:n.*2579C>T | |
| ENST00000688985.1:c.163C>T | ENSP00000510477.1:p.Arg55Trp | |
| ENST00000689129.1:c.3160C>T | ENSP00000510414.1:p.Arg1054Trp | |
| ENST00000689177.1:n.1008C>T | ||
| ENST00000689981.1:c.3157C>T | ENSP00000509035.1:p.Arg1053Trp | |
| ENST00000690369.1:n.3175C>T | ||
| ENST00000690990.1:c.3151C>T | ENSP00000510461.1:p.Arg1051Trp | |
| ENST00000691233.1:c.3154C>T | ENSP00000509215.1:p.Arg1052Trp | |
| ENST00000691345.1:n.1658C>T | ||
| ENST00000691792.1:c.3157C>T | ENSP00000509911.1:p.Arg1053Trp | |
| ENST00000691959.1:n.3036C>T | ||
| ENST00000692006.1:c.163C>T | ENSP00000509653.1:p.Arg55Trp | |
| ENST00000692844.1:n.34C>T | ||
| ENST00000693052.1:c.3157C>T | ENSP00000509558.1:p.Arg1053Trp | |
| ENST00000693440.1:c.3154C>T | ENSP00000509462.1:p.Arg1052Trp | |
| ENST00000693499.1:n.3248C>T | ||
| ENST00000380817.8:c.3157C>T MANE Select | ENSP00000370196.2:p.Arg1053Trp | |
| ENST00000348911.10:c.3160C>T | ENSP00000252027.7:p.Arg1054Trp | |
| ENST00000380817.7:c.3157C>T | ENSP00000370196.2:p.Arg1053Trp | |
| NM_002972.3:c.3157C>T | NP_002963.2:p.Arg1053Trp | |
| XM_005261931.1:c.3160C>T | XP_005261988.1:p.Arg1054Trp | |
| XM_005261935.1:c.3157C>T | XP_005261992.1:p.Arg1053Trp | |
| XM_011530707.1:c.3259C>T | XP_011529009.1:p.Arg1087Trp | |
| XM_011530708.1:c.3211C>T | XP_011529010.1:p.Arg1071Trp | |
| XM_011530709.1:c.3187C>T | XP_011529011.1:p.Arg1063Trp | |
| XM_011530710.1:c.3184C>T | XP_011529012.1:p.Arg1062Trp | |
| XM_011530711.1:c.3262C>T | XP_011529013.1:p.Arg1088Trp | |
| XR_938344.1:n.3277C>T | ||
| NM_001365819.1:c.3160C>T | NP_001352748.1:p.Arg1054Trp | |
| XM_005261935.2:c.3157C>T | XP_005261992.1:p.Arg1053Trp | |
| XM_011530709.2:c.3187C>T | XP_011529011.1:p.Arg1063Trp | |
| XM_011530710.2:c.3184C>T | XP_011529012.1:p.Arg1062Trp | |
| XM_017028905.2:c.3187C>T | XP_016884394.1:p.Arg1063Trp | |
| NM_002972.4:c.3157C>T MANE Select | NP_002963.2:p.Arg1053Trp |