Linked Data
ClinVar Variation Id:
1473034
ClinVar RCV Id:
RCV001977350
dbSNP Id:
rs1461644464
gnomAD v2:
2-241658459-C-G
gnomAD v3:
2-240719042-C-G
gnomAD v4:
2-240719042-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240719042C>G , CM000664.2:g.240719042C>G | GRCh38 |
| NC_000002.11:g.241658459C>G , CM000664.1:g.241658459C>G | GRCh37 |
| NC_000002.10:g.241307132C>G | NCBI36 |
| NG_029724.1:g.106166G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320389.12:c.4899G>C | ENSP00000322791.8:p.Gln1633His | |
| ENST00000404283.9:c.5202G>C | ENSP00000384231.5:p.Gln1734His | |
| ENST00000431776.6:c.1998G>C | ENSP00000414613.2:p.Gln666His | |
| ENST00000492812.6:n.3761G>C | ||
| ENST00000498729.9:c.5178G>C MANE Select | ENSP00000438388.1:p.Gln1726His | |
| ENST00000647731.1:c.4902G>C | ENSP00000498099.1:p.Gln1634His | |
| ENST00000647885.1:c.4989G>C | ENSP00000497739.1:p.Gln1663His | |
| ENST00000648047.1:c.4137G>C | ENSP00000497935.1:p.Gln1379His | |
| ENST00000648129.1:c.5151G>C | ENSP00000497293.1:p.Gln1717His | |
| ENST00000648364.1:c.4902G>C | ENSP00000498196.1:p.Gln1634His | |
| ENST00000648680.1:c.4929G>C | ENSP00000497586.1:p.Gln1643His | |
| ENST00000649096.1:c.4875G>C | ENSP00000497030.1:p.Gln1625His | |
| ENST00000649190.1:n.4172G>C | ||
| ENST00000649306.1:c.4977G>C | ENSP00000497678.1:p.Gln1659His | |
| ENST00000650053.1:c.4875G>C | ENSP00000497824.1:p.Gln1625His | |
| ENST00000650130.1:c.5151G>C | ENSP00000498082.1:p.Gln1717His | |
| ENST00000650430.1:n.4250G>C | ||
| ENST00000320389.11:c.4875G>C | ENSP00000322791.7:p.Gln1625His | |
| ENST00000460788.5:n.1735G>C | ||
| ENST00000492812.5:n.1650G>C | ||
| ENST00000498729.6:c.5178G>C | ENSP00000438388.1:p.Gln1726His | |
| NM_001244008.1:c.5178G>C | NP_001230937.1:p.Gln1726His | |
| NM_004321.6:c.4875G>C | NP_004312.2:p.Gln1625His | |
| XM_005247022.1:c.5205G>C | XP_005247079.1:p.Gln1735His | |
| XM_005247023.1:c.5202G>C | XP_005247080.1:p.Gln1734His | |
| XM_005247024.1:c.5178G>C | XP_005247081.1:p.Gln1726His | |
| XM_005247026.1:c.4902G>C | XP_005247083.1:p.Gln1634His | |
| XM_005247027.1:c.4899G>C | XP_005247084.1:p.Gln1633His | |
| XM_005247028.1:c.4875G>C | XP_005247085.1:p.Gln1625His | |
| XM_006712605.1:c.5151G>C | XP_006712668.1:p.Gln1717His | |
| XM_011511364.1:c.5205G>C | XP_011509666.1:p.Gln1735His | |
| XM_011511365.1:c.4929G>C | XP_011509667.1:p.Gln1643His | |
| XM_011511366.1:c.4200G>C | XP_011509668.1:p.Gln1400His | |
| XM_011511367.1:c.4200G>C | XP_011509669.1:p.Gln1400His | |
| NM_001320705.1:c.4902G>C | NP_001307634.1:p.Gln1634His | |
| NM_001330289.1:c.4929G>C | NP_001317218.1:p.Gln1643His | |
| NM_001330290.1:c.4977G>C | NP_001317219.1:p.Gln1659His | |
| NM_004321.7:c.4875G>C | NP_004312.2:p.Gln1625His | |
| NM_001320705.2:c.4902G>C | NP_001307634.1:p.Gln1634His | |
| NM_001330289.2:c.4929G>C | NP_001317218.1:p.Gln1643His | |
| NM_001330290.2:c.4977G>C | NP_001317219.1:p.Gln1659His | |
| NM_001244008.2:c.5178G>C MANE Select | NP_001230937.1:p.Gln1726His | |
| NM_001379631.1:c.5253G>C | NP_001366560.1:p.Gln1751His | |
| NM_001379632.1:c.5154G>C | NP_001366561.1:p.Gln1718His | |
| NM_001379633.1:c.5151G>C | NP_001366562.1:p.Gln1717His | |
| NM_001379634.1:c.5004G>C | NP_001366563.1:p.Gln1668His | |
| NM_001379635.1:c.5001G>C | NP_001366564.1:p.Gln1667His | |
| NM_001379636.1:c.4989G>C | NP_001366565.1:p.Gln1663His | |
| NM_001379637.1:c.4950G>C | NP_001366566.1:p.Gln1650His | |
| NM_001379638.1:c.4926G>C | NP_001366567.1:p.Gln1642His | |
| NM_001379639.1:c.4899G>C | NP_001366568.1:p.Gln1633His | |
| NM_001379640.1:c.4872G>C | NP_001366569.1:p.Gln1624His | |
| NM_001379641.1:c.4875G>C | NP_001366570.1:p.Gln1625His | |
| NM_001379642.1:c.5178G>C | NP_001366571.1:p.Gln1726His | |
| NM_001379645.1:c.5151G>C | NP_001366574.1:p.Gln1717His | |
| NM_001379646.1:c.5001G>C | NP_001366575.1:p.Gln1667His | |
| NM_001379648.1:c.4977G>C | NP_001366577.1:p.Gln1659His | |
| NM_001379649.1:c.4902G>C | NP_001366578.1:p.Gln1634His | |
| NM_001379650.1:c.4875G>C | NP_001366579.1:p.Gln1625His | |
| NM_001379651.1:c.4875G>C | NP_001366580.1:p.Gln1625His | |
| NM_001379653.1:c.4875G>C | NP_001366582.1:p.Gln1625His | |
| NM_004321.8:c.4875G>C | NP_004312.2:p.Gln1625His |