Linked Data
dbSNP Id:
rs1431514631
gnomAD v2:
22-50893301-C-T
gnomAD v3:
22-50454872-C-T
gnomAD v4:
22-50454872-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50454872C>T , CM000684.2:g.50454872C>T | GRCh38 |
| NC_000022.10:g.50893301C>T , CM000684.1:g.50893301C>T | GRCh37 |
| NC_000022.9:g.49240167C>T | NCBI36 |
| NG_041810.1:g.25200G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348911.11:c.4676G>A | ENSP00000252027.8:p.Arg1559Gln | |
| ENST00000418590.4:c.386G>A | ENSP00000401538.2:p.Arg129Gln | |
| ENST00000470434.2:n.1157G>A | ||
| ENST00000684986.1:c.4757G>A | ENSP00000509117.1:p.Arg1586Gln | |
| ENST00000685180.1:n.2488+5662G>A | ||
| ENST00000685390.1:n.2722G>A | ||
| ENST00000685411.1:n.504G>A | ||
| ENST00000685592.1:c.988G>A | ||
| ENST00000685809.1:c.4667G>A | ENSP00000508863.1:p.Arg1556Gln | |
| ENST00000686029.1:c.832G>A | ||
| ENST00000686191.1:n.3954G>A | ||
| ENST00000686222.1:c.*4176G>A | ENSP00000508737.1:n.*4176G>A | |
| ENST00000686321.1:c.850G>A | ||
| ENST00000686427.1:c.*1689G>A | ENSP00000510379.1:n.*1689G>A | |
| ENST00000686758.1:n.2568G>A | ||
| ENST00000686801.1:c.4742G>A | ENSP00000509915.1:p.Arg1581Gln | |
| ENST00000686826.1:n.1073G>A | ||
| ENST00000687016.1:c.4655G>A | ENSP00000509074.1:p.Arg1552Gln | |
| ENST00000687704.1:c.*2479G>A | ENSP00000510454.1:n.*2479G>A | |
| ENST00000688066.1:c.4754G>A | ENSP00000510782.1:p.Arg1585Gln | |
| ENST00000688124.1:c.*3672G>A | ENSP00000510645.1:n.*3672G>A | |
| ENST00000688848.1:c.*4098G>A | ENSP00000509419.1:n.*4098G>A | |
| ENST00000688985.1:c.1755G>A | ENSP00000510477.1:n.1755G>A | |
| ENST00000689129.1:c.4679G>A | ENSP00000510414.1:p.Arg1560Gln | |
| ENST00000689177.1:n.6026G>A | ||
| ENST00000689849.1:c.850G>A | ||
| ENST00000689981.1:c.4754G>A | ENSP00000509035.1:p.Arg1585Gln | |
| ENST00000690369.1:n.4772G>A | ||
| ENST00000690590.1:n.1801G>A | ||
| ENST00000690990.1:c.4748G>A | ENSP00000510461.1:p.Arg1583Gln | |
| ENST00000691233.1:c.4673G>A | ENSP00000509215.1:p.Arg1558Gln | |
| ENST00000691306.1:c.835G>A | ||
| ENST00000691345.1:n.2302+1344G>A | ||
| ENST00000691792.1:c.4742G>A | ENSP00000509911.1:p.Arg1581Gln | |
| ENST00000691959.1:n.5473G>A | ||
| ENST00000692844.1:n.1838G>A | ||
| ENST00000692946.1:c.850G>A | ||
| ENST00000693052.1:c.4772G>A | ENSP00000509558.1:p.Arg1591Gln | |
| ENST00000693289.1:n.1913G>A | ||
| ENST00000693440.1:c.4751G>A | ENSP00000509462.1:p.Arg1584Gln | |
| ENST00000693499.1:n.5750G>A | ||
| ENST00000693591.1:n.3562G>A | ||
| ENST00000380817.8:c.4754G>A MANE Select | ENSP00000370196.2:p.Arg1585Gln | |
| ENST00000348911.10:c.4679G>A | ENSP00000252027.7:p.Arg1560Gln | |
| ENST00000380817.7:c.4754G>A | ENSP00000370196.2:p.Arg1585Gln | |
| ENST00000418590.3:c.354G>A | ||
| ENST00000470434.1:n.895G>A | ||
| NM_002972.3:c.4754G>A | NP_002963.2:p.Arg1585Gln | |
| XM_005261931.1:c.4757G>A | XP_005261988.1:p.Arg1586Gln | |
| XM_005261935.1:c.4676G>A | XP_005261992.1:p.Arg1559Gln | |
| XM_011530707.1:c.4856G>A | XP_011529009.1:p.Arg1619Gln | |
| XM_011530708.1:c.4808G>A | XP_011529010.1:p.Arg1603Gln | |
| XM_011530709.1:c.4784G>A | XP_011529011.1:p.Arg1595Gln | |
| XM_011530710.1:c.4781G>A | XP_011529012.1:p.Arg1594Gln | |
| XM_011530711.1:c.4781G>A | XP_011529013.1:p.Arg1594Gln | |
| XR_938344.1:n.4874G>A | ||
| NM_001365819.1:c.4679G>A | NP_001352748.1:p.Arg1560Gln | |
| XM_005261935.2:c.4676G>A | XP_005261992.1:p.Arg1559Gln | |
| XM_011530709.2:c.4784G>A | XP_011529011.1:p.Arg1595Gln | |
| XM_011530710.2:c.4781G>A | XP_011529012.1:p.Arg1594Gln | |
| XM_017028905.2:c.4706G>A | XP_016884394.1:p.Arg1569Gln | |
| NM_002972.4:c.4754G>A MANE Select | NP_002963.2:p.Arg1585Gln |