Linked Data
ClinVar Variation Id:
1503306
ClinVar RCV Id:
RCV002045399
dbSNP Id:
rs1413480607
gnomAD v2:
22-50893353-C-T
gnomAD v4:
22-50454924-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50454924C>T , CM000684.2:g.50454924C>T | GRCh38 |
| NC_000022.10:g.50893353C>T , CM000684.1:g.50893353C>T | GRCh37 |
| NC_000022.9:g.49240219C>T | NCBI36 |
| NG_041810.1:g.25148G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348911.11:c.4624G>A | ENSP00000252027.8:p.Gly1542Arg | |
| ENST00000418590.4:c.334G>A | ENSP00000401538.2:p.Gly112Arg | |
| ENST00000470434.2:n.1105G>A | ||
| ENST00000684986.1:c.4705G>A | ENSP00000509117.1:p.Gly1569Arg | |
| ENST00000685180.1:n.2488+5610G>A | ||
| ENST00000685390.1:n.2670G>A | ||
| ENST00000685411.1:n.452G>A | ||
| ENST00000685592.1:c.936G>A | ||
| ENST00000685809.1:c.4615G>A | ENSP00000508863.1:p.Gly1539Arg | |
| ENST00000686029.1:c.780G>A | ||
| ENST00000686191.1:n.3902G>A | ||
| ENST00000686222.1:c.*4124G>A | ENSP00000508737.1:n.*4124G>A | |
| ENST00000686321.1:c.798G>A | ||
| ENST00000686427.1:c.*1637G>A | ENSP00000510379.1:n.*1637G>A | |
| ENST00000686758.1:n.2516G>A | ||
| ENST00000686801.1:c.4690G>A | ENSP00000509915.1:p.Gly1564Arg | |
| ENST00000686826.1:n.1021G>A | ||
| ENST00000687016.1:c.4603G>A | ENSP00000509074.1:p.Gly1535Arg | |
| ENST00000687704.1:c.*2427G>A | ENSP00000510454.1:n.*2427G>A | |
| ENST00000688066.1:c.4702G>A | ENSP00000510782.1:p.Gly1568Arg | |
| ENST00000688124.1:c.*3620G>A | ENSP00000510645.1:n.*3620G>A | |
| ENST00000688848.1:c.*4046G>A | ENSP00000509419.1:n.*4046G>A | |
| ENST00000688985.1:c.1703G>A | ENSP00000510477.1:n.1703G>A | |
| ENST00000689129.1:c.4627G>A | ENSP00000510414.1:p.Gly1543Arg | |
| ENST00000689177.1:n.5974G>A | ||
| ENST00000689849.1:c.798G>A | ||
| ENST00000689981.1:c.4702G>A | ENSP00000509035.1:p.Gly1568Arg | |
| ENST00000690369.1:n.4720G>A | ||
| ENST00000690590.1:n.1749G>A | ||
| ENST00000690990.1:c.4696G>A | ENSP00000510461.1:p.Gly1566Arg | |
| ENST00000691233.1:c.4621G>A | ENSP00000509215.1:p.Gly1541Arg | |
| ENST00000691306.1:c.783G>A | ||
| ENST00000691345.1:n.2302+1292G>A | ||
| ENST00000691792.1:c.4690G>A | ENSP00000509911.1:p.Gly1564Arg | |
| ENST00000691959.1:n.5421G>A | ||
| ENST00000692844.1:n.1786G>A | ||
| ENST00000692946.1:c.798G>A | ||
| ENST00000693052.1:c.4720G>A | ENSP00000509558.1:p.Gly1574Arg | |
| ENST00000693289.1:n.1861G>A | ||
| ENST00000693440.1:c.4699G>A | ENSP00000509462.1:p.Gly1567Arg | |
| ENST00000693499.1:n.5698G>A | ||
| ENST00000693591.1:n.3510G>A | ||
| ENST00000380817.8:c.4702G>A MANE Select | ENSP00000370196.2:p.Gly1568Arg | |
| ENST00000348911.10:c.4627G>A | ENSP00000252027.7:p.Gly1543Arg | |
| ENST00000380817.7:c.4702G>A | ENSP00000370196.2:p.Gly1568Arg | |
| ENST00000418590.3:c.302G>A | ||
| ENST00000470434.1:n.843G>A | ||
| NM_002972.3:c.4702G>A | NP_002963.2:p.Gly1568Arg | |
| XM_005261931.1:c.4705G>A | XP_005261988.1:p.Gly1569Arg | |
| XM_005261935.1:c.4624G>A | XP_005261992.1:p.Gly1542Arg | |
| XM_011530707.1:c.4804G>A | XP_011529009.1:p.Gly1602Arg | |
| XM_011530708.1:c.4756G>A | XP_011529010.1:p.Gly1586Arg | |
| XM_011530709.1:c.4732G>A | XP_011529011.1:p.Gly1578Arg | |
| XM_011530710.1:c.4729G>A | XP_011529012.1:p.Gly1577Arg | |
| XM_011530711.1:c.4729G>A | XP_011529013.1:p.Gly1577Arg | |
| XR_938344.1:n.4822G>A | ||
| NM_001365819.1:c.4627G>A | NP_001352748.1:p.Gly1543Arg | |
| XM_005261935.2:c.4624G>A | XP_005261992.1:p.Gly1542Arg | |
| XM_011530709.2:c.4732G>A | XP_011529011.1:p.Gly1578Arg | |
| XM_011530710.2:c.4729G>A | XP_011529012.1:p.Gly1577Arg | |
| XM_017028905.2:c.4654G>A | XP_016884394.1:p.Gly1552Arg | |
| NM_002972.4:c.4702G>A MANE Select | NP_002963.2:p.Gly1568Arg |