Linked Data
ClinVar Variation Id:
1408622
ClinVar RCV Id:
RCV001910054
dbSNP Id:
rs138871096
ExAC:
14:73678524 G / A
gnomAD v2:
14-73678524-G-A
gnomAD v3:
14-73211816-G-A
gnomAD v4:
14-73211816-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.73211816G>A , CM000676.2:g.73211816G>A | GRCh38 |
| NC_000014.8:g.73678524G>A , CM000676.1:g.73678524G>A | GRCh37 |
| NC_000014.7:g.72748277G>A | NCBI36 |
| NG_007386.2:g.80346G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553599.6:c.991G>A | ENSP00000452477.2:p.Gly331Arg | |
| ENST00000554131.6:c.1003G>A | ENSP00000451915.2:p.Gly335Arg | |
| ENST00000554995.2:n.1753G>A | ||
| ENST00000555386.6:c.1083G>A | ENSP00000450845.1:p.Ala361= | |
| ENST00000556066.2:n.1429G>A | ||
| ENST00000556951.6:c.991G>A | ENSP00000450551.2:p.Gly331Arg | |
| ENST00000557293.6:c.883G>A | ENSP00000451880.2:p.Gly295Arg | |
| ENST00000559361.6:c.*947G>A | ENSP00000454156.1:n.*947G>A | |
| ENST00000697912.1:c.991G>A | ENSP00000513477.1:p.Gly331Arg | |
| ENST00000697913.1:n.6553G>A | ||
| ENST00000700265.1:c.991G>A | ENSP00000514901.1:p.Gly331Arg | |
| ENST00000700266.1:c.*1215G>A | ENSP00000514902.1:n.*1215G>A | |
| ENST00000700267.1:c.1003G>A | ENSP00000514903.1:p.Gly335Arg | |
| ENST00000700268.1:c.1003G>A | ENSP00000514904.1:p.Gly335Arg | |
| ENST00000700269.1:c.1003G>A | ENSP00000514905.1:p.Gly335Arg | |
| ENST00000700271.1:c.944-5310G>A | ENSP00000514906.1:n.944-5310G>A | |
| ENST00000700272.1:c.*947G>A | ENSP00000514907.1:n.*947G>A | |
| ENST00000700273.1:c.991G>A | ENSP00000514908.1:p.Gly331Arg | |
| ENST00000700302.1:c.1003G>A | ENSP00000514929.1:p.Gly335Arg | |
| ENST00000700303.1:c.*665G>A | ENSP00000514930.1:n.*665G>A | |
| ENST00000700304.1:c.*947G>A | ENSP00000514931.1:n.*947G>A | |
| ENST00000700305.1:c.*561G>A | ENSP00000514932.1:n.*561G>A | |
| ENST00000700306.1:c.1003G>A | ENSP00000514933.1:p.Gly335Arg | |
| ENST00000700307.1:c.904G>A | ENSP00000514934.1:p.Gly302Arg | |
| ENST00000700308.1:c.*947G>A | ENSP00000514935.1:n.*947G>A | |
| ENST00000700309.1:c.*1092G>A | ENSP00000514936.1:n.*1092G>A | |
| ENST00000700310.1:c.984G>A | ENSP00000514937.1:p.Ala328= | |
| ENST00000700311.1:c.1003G>A | ENSP00000514938.1:p.Gly335Arg | |
| ENST00000700312.1:c.754G>A | ENSP00000514939.1:p.Gly252Arg | |
| ENST00000700313.1:c.991G>A | ENSP00000514940.1:p.Gly331Arg | |
| ENST00000700314.1:c.*942G>A | ENSP00000514941.1:n.*942G>A | |
| ENST00000700315.1:c.*561G>A | ENSP00000514942.1:n.*561G>A | |
| ENST00000700316.1:c.*783G>A | ENSP00000514943.1:n.*783G>A | |
| ENST00000700317.1:c.1003G>A | ENSP00000514944.1:p.Gly335Arg | |
| ENST00000700318.1:c.*665G>A | ENSP00000514945.1:n.*665G>A | |
| ENST00000700319.1:c.*443G>A | ENSP00000514946.1:n.*443G>A | |
| ENST00000700320.1:c.1030G>A | ENSP00000514947.1:p.Gly344Arg | |
| ENST00000700321.1:c.1003G>A | ENSP00000514948.1:p.Gly335Arg | |
| ENST00000700322.1:c.991G>A | ENSP00000514949.1:p.Gly331Arg | |
| ENST00000700323.1:c.1003G>A | ENSP00000514950.1:p.Gly335Arg | |
| ENST00000700324.1:c.991G>A | ENSP00000514951.1:p.Gly331Arg | |
| ENST00000700375.1:c.1003G>A | ENSP00000514966.1:p.Gly335Arg | |
| ENST00000700377.1:c.*471G>A | ENSP00000514967.1:n.*471G>A | |
| ENST00000700378.1:c.1003G>A | ENSP00000514968.1:p.Gly335Arg | |
| ENST00000700379.1:n.1401G>A | ||
| ENST00000700389.1:c.991G>A | ENSP00000514970.1:p.Gly331Arg | |
| ENST00000700390.1:n.2714G>A | ||
| ENST00000700391.1:n.214G>A | ||
| ENST00000700404.1:n.2002G>A | ||
| ENST00000700435.1:n.1138G>A | ||
| ENST00000700436.1:c.1095G>A | ENSP00000514987.1:p.Ala365= | |
| ENST00000700437.1:c.754G>A | ENSP00000514988.1:p.Gly252Arg | |
| ENST00000700468.1:c.892G>A | ENSP00000515001.1:p.Gly298Arg | |
| ENST00000700469.1:c.991G>A | ENSP00000515002.1:p.Gly331Arg | |
| ENST00000324501.10:c.1003G>A MANE Select | ENSP00000326366.5:p.Gly335Arg | |
| ENST00000324501.9:c.1003G>A | ENSP00000326366.5:p.Gly335Arg | |
| ENST00000357710.8:c.991G>A | ENSP00000350342.4:p.Gly331Arg | |
| ENST00000394164.5:c.991G>A | ENSP00000377719.1:p.Gly331Arg | |
| ENST00000406768.1:c.727G>A | ENSP00000385948.1:p.Gly243Arg | |
| ENST00000553855.5:c.1095G>A | ENSP00000452242.1:p.Ala365= | |
| ENST00000554995.1:n.555G>A | ||
| ENST00000555386.5:c.1083G>A | ENSP00000450845.1:p.Ala361= | |
| ENST00000555867.1:n.368G>A | ||
| ENST00000557511.5:c.956-5310G>A | ENSP00000451429.1:n.956-5310G>A | |
| NM_000021.3:c.1003G>A | NP_000012.1:p.Gly335Arg | |
| NM_007318.2:c.991G>A | NP_015557.2:p.Gly331Arg | |
| XM_005267864.1:c.1003G>A | XP_005267921.1:p.Gly335Arg | |
| XM_005267866.1:c.991G>A | XP_005267923.1:p.Gly331Arg | |
| XM_011536971.1:c.1003G>A | XP_011535273.1:p.Gly335Arg | |
| XM_011536972.1:c.1003G>A | XP_011535274.1:p.Gly335Arg | |
| XM_011536973.1:c.991G>A | XP_011535275.1:p.Gly331Arg | |
| XM_011536974.1:c.991G>A | XP_011535276.1:p.Gly331Arg | |
| XM_005267864.3:c.1003G>A | XP_005267921.1:p.Gly335Arg | |
| XM_005267866.2:c.991G>A | XP_005267923.1:p.Gly331Arg | |
| XM_011536972.2:c.1003G>A | XP_011535274.1:p.Gly335Arg | |
| XM_011536973.2:c.991G>A | XP_011535275.1:p.Gly331Arg | |
| XM_011536974.2:c.991G>A | XP_011535276.1:p.Gly331Arg | |
| NM_000021.4:c.1003G>A MANE Select | NP_000012.1:p.Gly335Arg | |
| NM_007318.3:c.991G>A | NP_015557.2:p.Gly331Arg |