Linked Data
ClinVar Variation Id:
38297
dbSNP Id:
rs63750900
ExAC:
14:73664775 G / A
gnomAD v2:
14-73664775-G-A
gnomAD v3:
14-73198067-G-A
gnomAD v4:
14-73198067-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.73198067G>A , CM000676.2:g.73198067G>A | GRCh38 |
| NC_000014.8:g.73664775G>A , CM000676.1:g.73664775G>A | GRCh37 |
| NC_000014.7:g.72734528G>A | NCBI36 |
| NG_007386.2:g.66597G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553599.6:c.794G>A | ENSP00000452477.2:p.Arg265His | |
| ENST00000554131.6:c.806G>A | ENSP00000451915.2:p.Arg269His | |
| ENST00000554995.2:n.1556G>A | ||
| ENST00000555386.6:c.794G>A | ENSP00000450845.1:p.Arg265His | |
| ENST00000556066.2:n.1232G>A | ||
| ENST00000556951.6:c.794G>A | ENSP00000450551.2:p.Arg265His | |
| ENST00000557293.6:c.686G>A | ENSP00000451880.2:p.Arg229His | |
| ENST00000559361.6:c.*750G>A | ENSP00000454156.1:n.*750G>A | |
| ENST00000697912.1:c.794G>A | ENSP00000513477.1:p.Arg265His | |
| ENST00000697913.1:n.1060G>A | ||
| ENST00000700265.1:c.794G>A | ENSP00000514901.1:p.Arg265His | |
| ENST00000700266.1:c.*1018G>A | ENSP00000514902.1:n.*1018G>A | |
| ENST00000700267.1:c.806G>A | ENSP00000514903.1:p.Arg269His | |
| ENST00000700268.1:c.806G>A | ENSP00000514904.1:p.Arg269His | |
| ENST00000700269.1:c.806G>A | ENSP00000514905.1:p.Arg269His | |
| ENST00000700270.1:n.1062G>A | ||
| ENST00000700271.1:c.794G>A | ENSP00000514906.1:p.Arg265His | |
| ENST00000700272.1:c.*750G>A | ENSP00000514907.1:n.*750G>A | |
| ENST00000700273.1:c.794G>A | ENSP00000514908.1:p.Arg265His | |
| ENST00000700302.1:c.806G>A | ENSP00000514929.1:p.Arg269His | |
| ENST00000700303.1:c.*468G>A | ENSP00000514930.1:n.*468G>A | |
| ENST00000700304.1:c.*750G>A | ENSP00000514931.1:n.*750G>A | |
| ENST00000700305.1:c.*364G>A | ENSP00000514932.1:n.*364G>A | |
| ENST00000700306.1:c.806G>A | ENSP00000514933.1:p.Arg269His | |
| ENST00000700307.1:c.769+5203G>A | ENSP00000514934.1:n.769+5203G>A | |
| ENST00000700308.1:c.*750G>A | ENSP00000514935.1:n.*750G>A | |
| ENST00000700309.1:c.*895G>A | ENSP00000514936.1:n.*895G>A | |
| ENST00000700310.1:c.757+5203G>A | ENSP00000514937.1:n.757+5203G>A | |
| ENST00000700311.1:c.806G>A | ENSP00000514938.1:p.Arg269His | |
| ENST00000700312.1:c.557G>A | ENSP00000514939.1:p.Arg186His | |
| ENST00000700313.1:c.794G>A | ENSP00000514940.1:p.Arg265His | |
| ENST00000700314.1:c.*745G>A | ENSP00000514941.1:n.*745G>A | |
| ENST00000700315.1:c.*364G>A | ENSP00000514942.1:n.*364G>A | |
| ENST00000700316.1:c.*586G>A | ENSP00000514943.1:n.*586G>A | |
| ENST00000700317.1:c.806G>A | ENSP00000514944.1:p.Arg269His | |
| ENST00000700318.1:c.*468G>A | ENSP00000514945.1:n.*468G>A | |
| ENST00000700319.1:c.*246G>A | ENSP00000514946.1:n.*246G>A | |
| ENST00000700320.1:c.833G>A | ENSP00000514947.1:p.Arg278His | |
| ENST00000700321.1:c.806G>A | ENSP00000514948.1:p.Arg269His | |
| ENST00000700322.1:c.794G>A | ENSP00000514949.1:p.Arg265His | |
| ENST00000700323.1:c.806G>A | ENSP00000514950.1:p.Arg269His | |
| ENST00000700324.1:c.794G>A | ENSP00000514951.1:p.Arg265His | |
| ENST00000700375.1:c.806G>A | ENSP00000514966.1:p.Arg269His | |
| ENST00000700377.1:c.*274G>A | ENSP00000514967.1:n.*274G>A | |
| ENST00000700378.1:c.806G>A | ENSP00000514968.1:p.Arg269His | |
| ENST00000700379.1:n.1204G>A | ||
| ENST00000700389.1:c.794G>A | ENSP00000514970.1:p.Arg265His | |
| ENST00000700390.1:n.2517G>A | ||
| ENST00000700404.1:n.1805G>A | ||
| ENST00000700433.1:n.1057G>A | ||
| ENST00000700434.1:n.1059G>A | ||
| ENST00000700435.1:n.941G>A | ||
| ENST00000700436.1:c.806G>A | ENSP00000514987.1:p.Arg269His | |
| ENST00000700437.1:c.557G>A | ENSP00000514988.1:p.Arg186His | |
| ENST00000700467.1:n.1063G>A | ||
| ENST00000700468.1:c.757+5203G>A | ENSP00000515001.1:n.757+5203G>A | |
| ENST00000700469.1:c.794G>A | ENSP00000515002.1:p.Arg265His | |
| ENST00000324501.10:c.806G>A MANE Select | ENSP00000326366.5:p.Arg269His | |
| ENST00000324501.9:c.806G>A | ENSP00000326366.5:p.Arg269His | |
| ENST00000357710.8:c.794G>A | ENSP00000350342.4:p.Arg265His | |
| ENST00000394164.5:c.794G>A | ENSP00000377719.1:p.Arg265His | |
| ENST00000406768.1:c.530G>A | ENSP00000385948.1:p.Arg177His | |
| ENST00000553855.5:c.806G>A | ENSP00000452242.1:p.Arg269His | |
| ENST00000554995.1:n.358G>A | ||
| ENST00000555386.5:c.794G>A | ENSP00000450845.1:p.Arg265His | |
| ENST00000557511.5:c.806G>A | ENSP00000451429.1:p.Arg269His | |
| NM_000021.3:c.806G>A | NP_000012.1:p.Arg269His | |
| NM_007318.2:c.794G>A | NP_015557.2:p.Arg265His | |
| XM_005267864.1:c.806G>A | XP_005267921.1:p.Arg269His | |
| XM_005267866.1:c.794G>A | XP_005267923.1:p.Arg265His | |
| XM_011536971.1:c.806G>A | XP_011535273.1:p.Arg269His | |
| XM_011536972.1:c.806G>A | XP_011535274.1:p.Arg269His | |
| XM_011536973.1:c.794G>A | XP_011535275.1:p.Arg265His | |
| XM_011536974.1:c.794G>A | XP_011535276.1:p.Arg265His | |
| XM_005267864.3:c.806G>A | XP_005267921.1:p.Arg269His | |
| XM_005267866.2:c.794G>A | XP_005267923.1:p.Arg265His | |
| XM_011536972.2:c.806G>A | XP_011535274.1:p.Arg269His | |
| XM_011536973.2:c.794G>A | XP_011535275.1:p.Arg265His | |
| XM_011536974.2:c.794G>A | XP_011535276.1:p.Arg265His | |
| NM_000021.4:c.806G>A MANE Select | NP_000012.1:p.Arg269His | |
| NM_007318.3:c.794G>A | NP_015557.2:p.Arg265His |