Linked Data
ClinVar Variation Id:
2923936
ClinVar RCV Id:
RCV003783494
dbSNP Id:
rs996227958
gnomAD v2:
14-73678608-G-C
gnomAD v4:
14-73211900-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.73211900G>C , CM000676.2:g.73211900G>C | GRCh38 |
| NC_000014.8:g.73678608G>C , CM000676.1:g.73678608G>C | GRCh37 |
| NC_000014.7:g.72748361G>C | NCBI36 |
| NG_007386.2:g.80430G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553599.6:c.1075G>C | ENSP00000452477.2:p.Glu359Gln | |
| ENST00000554131.6:c.1087G>C | ENSP00000451915.2:p.Glu363Gln | |
| ENST00000554995.2:n.1837G>C | ||
| ENST00000555386.6:c.*42G>C | ENSP00000450845.1:n.*42G>C | |
| ENST00000556066.2:n.1513G>C | ||
| ENST00000556951.6:c.1075G>C | ENSP00000450551.2:p.Glu359Gln | |
| ENST00000557293.6:c.967G>C | ENSP00000451880.2:p.Glu323Gln | |
| ENST00000559361.6:c.*1031G>C | ENSP00000454156.1:n.*1031G>C | |
| ENST00000697912.1:c.1075G>C | ENSP00000513477.1:p.Glu359Gln | |
| ENST00000697913.1:n.6637G>C | ||
| ENST00000700265.1:c.1075G>C | ENSP00000514901.1:p.Glu359Gln | |
| ENST00000700266.1:c.*1299G>C | ENSP00000514902.1:n.*1299G>C | |
| ENST00000700267.1:c.1087G>C | ENSP00000514903.1:p.Glu363Gln | |
| ENST00000700268.1:c.1087G>C | ENSP00000514904.1:p.Glu363Gln | |
| ENST00000700269.1:c.1087G>C | ENSP00000514905.1:p.Glu363Gln | |
| ENST00000700271.1:c.944-5226G>C | ENSP00000514906.1:n.944-5226G>C | |
| ENST00000700272.1:c.*1031G>C | ENSP00000514907.1:n.*1031G>C | |
| ENST00000700273.1:c.1075G>C | ENSP00000514908.1:p.Glu359Gln | |
| ENST00000700302.1:c.1087G>C | ENSP00000514929.1:p.Glu363Gln | |
| ENST00000700303.1:c.*749G>C | ENSP00000514930.1:n.*749G>C | |
| ENST00000700304.1:c.*1031G>C | ENSP00000514931.1:n.*1031G>C | |
| ENST00000700305.1:c.*645G>C | ENSP00000514932.1:n.*645G>C | |
| ENST00000700306.1:c.1087G>C | ENSP00000514933.1:p.Glu363Gln | |
| ENST00000700307.1:c.988G>C | ENSP00000514934.1:p.Glu330Gln | |
| ENST00000700308.1:c.*1031G>C | ENSP00000514935.1:n.*1031G>C | |
| ENST00000700309.1:c.*1176G>C | ENSP00000514936.1:n.*1176G>C | |
| ENST00000700310.1:c.*42G>C | ENSP00000514937.1:n.*42G>C | |
| ENST00000700311.1:c.1087G>C | ENSP00000514938.1:p.Glu363Gln | |
| ENST00000700312.1:c.838G>C | ENSP00000514939.1:p.Glu280Gln | |
| ENST00000700313.1:c.1075G>C | ENSP00000514940.1:p.Glu359Gln | |
| ENST00000700314.1:c.*1026G>C | ENSP00000514941.1:n.*1026G>C | |
| ENST00000700315.1:c.*645G>C | ENSP00000514942.1:n.*645G>C | |
| ENST00000700316.1:c.*867G>C | ENSP00000514943.1:n.*867G>C | |
| ENST00000700317.1:c.1087G>C | ENSP00000514944.1:p.Glu363Gln | |
| ENST00000700318.1:c.*749G>C | ENSP00000514945.1:n.*749G>C | |
| ENST00000700319.1:c.*527G>C | ENSP00000514946.1:n.*527G>C | |
| ENST00000700320.1:c.1114G>C | ENSP00000514947.1:p.Glu372Gln | |
| ENST00000700321.1:c.1087G>C | ENSP00000514948.1:p.Glu363Gln | |
| ENST00000700322.1:c.1075G>C | ENSP00000514949.1:p.Glu359Gln | |
| ENST00000700323.1:c.1087G>C | ENSP00000514950.1:p.Glu363Gln | |
| ENST00000700324.1:c.1075G>C | ENSP00000514951.1:p.Glu359Gln | |
| ENST00000700375.1:c.1087G>C | ENSP00000514966.1:p.Glu363Gln | |
| ENST00000700377.1:c.*555G>C | ENSP00000514967.1:n.*555G>C | |
| ENST00000700378.1:c.1087G>C | ENSP00000514968.1:p.Glu363Gln | |
| ENST00000700379.1:n.1485G>C | ||
| ENST00000700389.1:c.1075G>C | ENSP00000514970.1:p.Glu359Gln | |
| ENST00000700390.1:n.2798G>C | ||
| ENST00000700391.1:n.298G>C | ||
| ENST00000700404.1:n.2086G>C | ||
| ENST00000700435.1:n.1222G>C | ||
| ENST00000700436.1:c.*42G>C | ENSP00000514987.1:n.*42G>C | |
| ENST00000700437.1:c.838G>C | ENSP00000514988.1:p.Glu280Gln | |
| ENST00000700468.1:c.976G>C | ENSP00000515001.1:p.Glu326Gln | |
| ENST00000700469.1:c.1075G>C | ENSP00000515002.1:p.Glu359Gln | |
| ENST00000324501.10:c.1087G>C MANE Select | ENSP00000326366.5:p.Glu363Gln | |
| ENST00000324501.9:c.1087G>C | ENSP00000326366.5:p.Glu363Gln | |
| ENST00000357710.8:c.1075G>C | ENSP00000350342.4:p.Glu359Gln | |
| ENST00000394164.5:c.1075G>C | ENSP00000377719.1:p.Glu359Gln | |
| ENST00000406768.1:c.811G>C | ENSP00000385948.1:p.Glu271Gln | |
| ENST00000553855.5:c.1179G>C | ENSP00000452242.1:n.1179G>C | |
| ENST00000555386.5:c.1167G>C | ENSP00000450845.1:n.1167G>C | |
| ENST00000555867.1:n.452G>C | ||
| ENST00000557511.5:c.956-5226G>C | ENSP00000451429.1:n.956-5226G>C | |
| NM_000021.3:c.1087G>C | NP_000012.1:p.Glu363Gln | |
| NM_007318.2:c.1075G>C | NP_015557.2:p.Glu359Gln | |
| XM_005267864.1:c.1087G>C | XP_005267921.1:p.Glu363Gln | |
| XM_005267866.1:c.1075G>C | XP_005267923.1:p.Glu359Gln | |
| XM_011536971.1:c.1087G>C | XP_011535273.1:p.Glu363Gln | |
| XM_011536972.1:c.1087G>C | XP_011535274.1:p.Glu363Gln | |
| XM_011536973.1:c.1075G>C | XP_011535275.1:p.Glu359Gln | |
| XM_011536974.1:c.1075G>C | XP_011535276.1:p.Glu359Gln | |
| XM_005267864.3:c.1087G>C | XP_005267921.1:p.Glu363Gln | |
| XM_005267866.2:c.1075G>C | XP_005267923.1:p.Glu359Gln | |
| XM_011536972.2:c.1087G>C | XP_011535274.1:p.Glu363Gln | |
| XM_011536973.2:c.1075G>C | XP_011535275.1:p.Glu359Gln | |
| XM_011536974.2:c.1075G>C | XP_011535276.1:p.Glu359Gln | |
| NM_000021.4:c.1087G>C MANE Select | NP_000012.1:p.Glu363Gln | |
| NM_007318.3:c.1075G>C | NP_015557.2:p.Glu359Gln |