Linked Data
ClinVar Variation Id:
98116
dbSNP Id:
rs63750249
gnomAD v2:
14-73685908-A-G
gnomAD v3:
14-73219200-A-G
gnomAD v4:
14-73219200-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.73219200A>G , CM000676.2:g.73219200A>G | GRCh38 |
| NC_000014.8:g.73685908A>G , CM000676.1:g.73685908A>G | GRCh37 |
| NC_000014.7:g.72755661A>G | NCBI36 |
| NG_007386.2:g.87730A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553599.6:c.1303A>G | ENSP00000452477.2:p.Ile435Val | |
| ENST00000554131.6:c.1315A>G | ENSP00000451915.2:p.Ile439Val | |
| ENST00000554995.2:n.2065A>G | ||
| ENST00000555386.6:c.*270A>G | ENSP00000450845.1:n.*270A>G | |
| ENST00000556066.2:n.1741A>G | ||
| ENST00000556951.6:c.1303A>G | ENSP00000450551.2:p.Ile435Val | |
| ENST00000557293.6:c.1195A>G | ENSP00000451880.2:p.Ile399Val | |
| ENST00000559361.6:c.*1259A>G | ENSP00000454156.1:n.*1259A>G | |
| ENST00000697912.1:c.*503A>G | ENSP00000513477.1:n.*503A>G | |
| ENST00000697913.1:n.6865A>G | ||
| ENST00000697915.1:n.672A>G | ||
| ENST00000700265.1:c.1303A>G | ENSP00000514901.1:p.Ile435Val | |
| ENST00000700266.1:c.*1527A>G | ENSP00000514902.1:n.*1527A>G | |
| ENST00000700267.1:c.1315A>G | ENSP00000514903.1:p.Ile439Val | |
| ENST00000700268.1:c.1315A>G | ENSP00000514904.1:p.Ile439Val | |
| ENST00000700269.1:c.1315A>G | ENSP00000514905.1:p.Ile439Val | |
| ENST00000700271.1:c.1129A>G | ENSP00000514906.1:p.Ile377Val | |
| ENST00000700272.1:c.*1259A>G | ENSP00000514907.1:n.*1259A>G | |
| ENST00000700273.1:c.1303A>G | ENSP00000514908.1:p.Ile435Val | |
| ENST00000700302.1:c.*131A>G | ENSP00000514929.1:n.*131A>G | |
| ENST00000700303.1:c.*977A>G | ENSP00000514930.1:n.*977A>G | |
| ENST00000700304.1:c.*1259A>G | ENSP00000514931.1:n.*1259A>G | |
| ENST00000700305.1:c.*873A>G | ENSP00000514932.1:n.*873A>G | |
| ENST00000700306.1:c.1315A>G | ENSP00000514933.1:p.Ile439Val | |
| ENST00000700307.1:c.1216A>G | ENSP00000514934.1:p.Ile406Val | |
| ENST00000700308.1:c.*1259A>G | ENSP00000514935.1:n.*1259A>G | |
| ENST00000700309.1:c.*1404A>G | ENSP00000514936.1:n.*1404A>G | |
| ENST00000700310.1:c.*270A>G | ENSP00000514937.1:n.*270A>G | |
| ENST00000700311.1:c.*131A>G | ENSP00000514938.1:n.*131A>G | |
| ENST00000700312.1:c.1066A>G | ENSP00000514939.1:p.Ile356Val | |
| ENST00000700313.1:c.1303A>G | ENSP00000514940.1:p.Ile435Val | |
| ENST00000700314.1:c.*1254A>G | ENSP00000514941.1:n.*1254A>G | |
| ENST00000700315.1:c.*873A>G | ENSP00000514942.1:n.*873A>G | |
| ENST00000700316.1:c.*1095A>G | ENSP00000514943.1:n.*1095A>G | |
| ENST00000700317.1:c.1315A>G | ENSP00000514944.1:p.Ile439Val | |
| ENST00000700318.1:c.*977A>G | ENSP00000514945.1:n.*977A>G | |
| ENST00000700319.1:c.*755A>G | ENSP00000514946.1:n.*755A>G | |
| ENST00000700320.1:c.1342A>G | ENSP00000514947.1:p.Ile448Val | |
| ENST00000700321.1:c.1315A>G | ENSP00000514948.1:p.Ile439Val | |
| ENST00000700322.1:c.1303A>G | ENSP00000514949.1:p.Ile435Val | |
| ENST00000700323.1:c.1315A>G | ENSP00000514950.1:p.Ile439Val | |
| ENST00000700324.1:c.1303A>G | ENSP00000514951.1:p.Ile435Val | |
| ENST00000700375.1:c.1315A>G | ENSP00000514966.1:p.Ile439Val | |
| ENST00000700377.1:c.*783A>G | ENSP00000514967.1:n.*783A>G | |
| ENST00000700378.1:c.1315A>G | ENSP00000514968.1:p.Ile439Val | |
| ENST00000700379.1:n.1713A>G | ||
| ENST00000700389.1:c.1303A>G | ENSP00000514970.1:p.Ile435Val | |
| ENST00000700390.1:n.3026A>G | ||
| ENST00000700391.1:n.526A>G | ||
| ENST00000700404.1:n.2314A>G | ||
| ENST00000700436.1:c.*270A>G | ENSP00000514987.1:n.*270A>G | |
| ENST00000700437.1:c.1066A>G | ENSP00000514988.1:p.Ile356Val | |
| ENST00000700468.1:c.1204A>G | ENSP00000515001.1:p.Ile402Val | |
| ENST00000700469.1:c.1303A>G | ENSP00000515002.1:p.Ile435Val | |
| ENST00000324501.10:c.1315A>G MANE Select | ENSP00000326366.5:p.Ile439Val | |
| ENST00000324501.9:c.1315A>G | ENSP00000326366.5:p.Ile439Val | |
| ENST00000357710.8:c.1303A>G | ENSP00000350342.4:p.Ile435Val | |
| ENST00000394164.5:c.1303A>G | ENSP00000377719.1:p.Ile435Val | |
| ENST00000406768.1:c.1039A>G | ENSP00000385948.1:p.Ile347Val | |
| ENST00000555386.5:c.1395A>G | ENSP00000450845.1:n.1395A>G | |
| ENST00000555867.1:n.680A>G | ||
| ENST00000557511.5:c.1141A>G | ENSP00000451429.1:p.Ile381Val | |
| NM_000021.3:c.1315A>G | NP_000012.1:p.Ile439Val | |
| NM_007318.2:c.1303A>G | NP_015557.2:p.Ile435Val | |
| XM_005267864.1:c.1315A>G | XP_005267921.1:p.Ile439Val | |
| XM_005267866.1:c.1303A>G | XP_005267923.1:p.Ile435Val | |
| XM_011536971.1:c.1315A>G | XP_011535273.1:p.Ile439Val | |
| XM_011536972.1:c.1315A>G | XP_011535274.1:p.Ile439Val | |
| XM_011536973.1:c.1303A>G | XP_011535275.1:p.Ile435Val | |
| XM_011536974.1:c.1303A>G | XP_011535276.1:p.Ile435Val | |
| XM_005267864.3:c.1315A>G | XP_005267921.1:p.Ile439Val | |
| XM_005267866.2:c.1303A>G | XP_005267923.1:p.Ile435Val | |
| XM_011536972.2:c.1315A>G | XP_011535274.1:p.Ile439Val | |
| XM_011536973.2:c.1303A>G | XP_011535275.1:p.Ile435Val | |
| XM_011536974.2:c.1303A>G | XP_011535276.1:p.Ile435Val | |
| NM_000021.4:c.1315A>G MANE Select | NP_000012.1:p.Ile439Val | |
| NM_007318.3:c.1303A>G | NP_015557.2:p.Ile435Val |