Linked Data
dbSNP Id:
rs374392861
ExAC:
22:50893511 A / G
gnomAD v2:
22-50893511-A-G
gnomAD v3:
22-50455082-A-G
gnomAD v4:
22-50455082-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50455082A>G , CM000684.2:g.50455082A>G | GRCh38 |
| NC_000022.10:g.50893511A>G , CM000684.1:g.50893511A>G | GRCh37 |
| NC_000022.9:g.49240377A>G | NCBI36 |
| NG_041810.1:g.24990T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348911.11:c.4537T>C | ENSP00000252027.8:p.Tyr1513His | |
| ENST00000418590.4:c.247T>C | ENSP00000401538.2:p.Tyr83His | |
| ENST00000470434.2:n.1018T>C | ||
| ENST00000684986.1:c.4618T>C | ENSP00000509117.1:p.Tyr1540His | |
| ENST00000685180.1:n.2488+5452T>C | ||
| ENST00000685390.1:n.2583T>C | ||
| ENST00000685411.1:n.365T>C | ||
| ENST00000685592.1:c.849T>C | ||
| ENST00000685809.1:c.4528T>C | ENSP00000508863.1:p.Tyr1510His | |
| ENST00000686029.1:c.693T>C | ||
| ENST00000686191.1:n.3815T>C | ||
| ENST00000686222.1:c.*4037T>C | ENSP00000508737.1:n.*4037T>C | |
| ENST00000686321.1:c.711T>C | ||
| ENST00000686427.1:c.*1550T>C | ENSP00000510379.1:n.*1550T>C | |
| ENST00000686758.1:n.2358T>C | ||
| ENST00000686801.1:c.4603T>C | ENSP00000509915.1:p.Tyr1535His | |
| ENST00000686826.1:n.934T>C | ||
| ENST00000687016.1:c.4516T>C | ENSP00000509074.1:p.Tyr1506His | |
| ENST00000687704.1:c.*2340T>C | ENSP00000510454.1:n.*2340T>C | |
| ENST00000688066.1:c.4615T>C | ENSP00000510782.1:p.Tyr1539His | |
| ENST00000688124.1:c.*3533T>C | ENSP00000510645.1:n.*3533T>C | |
| ENST00000688848.1:c.*3959T>C | ENSP00000509419.1:n.*3959T>C | |
| ENST00000688985.1:c.1616T>C | ENSP00000510477.1:n.1616T>C | |
| ENST00000689129.1:c.4540T>C | ENSP00000510414.1:p.Tyr1514His | |
| ENST00000689177.1:n.5887T>C | ||
| ENST00000689849.1:c.711T>C | ||
| ENST00000689981.1:c.4615T>C | ENSP00000509035.1:p.Tyr1539His | |
| ENST00000690369.1:n.4633T>C | ||
| ENST00000690590.1:n.1662T>C | ||
| ENST00000690990.1:c.4609T>C | ENSP00000510461.1:p.Tyr1537His | |
| ENST00000691233.1:c.4534T>C | ENSP00000509215.1:p.Tyr1512His | |
| ENST00000691306.1:c.713T>C | ||
| ENST00000691345.1:n.2302+1134T>C | ||
| ENST00000691792.1:c.4603T>C | ENSP00000509911.1:p.Tyr1535His | |
| ENST00000691959.1:n.5334T>C | ||
| ENST00000692844.1:n.1699T>C | ||
| ENST00000692946.1:c.711T>C | ||
| ENST00000693052.1:c.4633T>C | ENSP00000509558.1:p.Tyr1545His | |
| ENST00000693289.1:n.1774T>C | ||
| ENST00000693440.1:c.4612T>C | ENSP00000509462.1:p.Tyr1538His | |
| ENST00000693499.1:n.5540T>C | ||
| ENST00000693591.1:n.3352T>C | ||
| ENST00000380817.8:c.4615T>C MANE Select | ENSP00000370196.2:p.Tyr1539His | |
| ENST00000348911.10:c.4540T>C | ENSP00000252027.7:p.Tyr1514His | |
| ENST00000380817.7:c.4615T>C | ENSP00000370196.2:p.Tyr1539His | |
| ENST00000418590.3:c.215T>C | ||
| ENST00000470434.1:n.756T>C | ||
| NM_002972.3:c.4615T>C | NP_002963.2:p.Tyr1539His | |
| XM_005261931.1:c.4618T>C | XP_005261988.1:p.Tyr1540His | |
| XM_005261935.1:c.4537T>C | XP_005261992.1:p.Tyr1513His | |
| XM_011530707.1:c.4717T>C | XP_011529009.1:p.Tyr1573His | |
| XM_011530708.1:c.4669T>C | XP_011529010.1:p.Tyr1557His | |
| XM_011530709.1:c.4645T>C | XP_011529011.1:p.Tyr1549His | |
| XM_011530710.1:c.4642T>C | XP_011529012.1:p.Tyr1548His | |
| XM_011530711.1:c.4642T>C | XP_011529013.1:p.Tyr1548His | |
| XR_938344.1:n.4735T>C | ||
| NM_001365819.1:c.4540T>C | NP_001352748.1:p.Tyr1514His | |
| XM_005261935.2:c.4537T>C | XP_005261992.1:p.Tyr1513His | |
| XM_011530709.2:c.4645T>C | XP_011529011.1:p.Tyr1549His | |
| XM_011530710.2:c.4642T>C | XP_011529012.1:p.Tyr1548His | |
| XM_017028905.2:c.4567T>C | XP_016884394.1:p.Tyr1523His | |
| NM_002972.4:c.4615T>C MANE Select | NP_002963.2:p.Tyr1539His |