Linked Data
ClinVar Variation Id:
1280880
ClinVar RCV Id:
RCV001688899
dbSNP Id:
rs3025786
ExAC:
14:73664718 T / C
gnomAD v2:
14-73664718-T-C
gnomAD v3:
14-73198010-T-C
gnomAD v4:
14-73198010-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.73198010T>C , CM000676.2:g.73198010T>C | GRCh38 |
| NC_000014.8:g.73664718T>C , CM000676.1:g.73664718T>C | GRCh37 |
| NC_000014.7:g.72734471T>C | NCBI36 |
| NG_007386.2:g.66540T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553599.6:c.758-21T>C | ENSP00000452477.2:n.758-21T>C | |
| ENST00000554131.6:c.770-21T>C | ENSP00000451915.2:n.770-21T>C | |
| ENST00000554995.2:n.1499T>C | ||
| ENST00000555386.6:c.758-21T>C | ENSP00000450845.1:n.758-21T>C | |
| ENST00000556066.2:n.1196-21T>C | ||
| ENST00000556951.6:c.758-21T>C | ENSP00000450551.2:n.758-21T>C | |
| ENST00000557293.6:c.650-21T>C | ENSP00000451880.2:n.650-21T>C | |
| ENST00000559361.6:c.*714-21T>C | ENSP00000454156.1:n.*714-21T>C | |
| ENST00000697912.1:c.758-21T>C | ENSP00000513477.1:n.758-21T>C | |
| ENST00000697913.1:n.1024-21T>C | ||
| ENST00000700265.1:c.758-21T>C | ENSP00000514901.1:n.758-21T>C | |
| ENST00000700266.1:c.*982-21T>C | ENSP00000514902.1:n.*982-21T>C | |
| ENST00000700267.1:c.770-21T>C | ENSP00000514903.1:n.770-21T>C | |
| ENST00000700268.1:c.770-21T>C | ENSP00000514904.1:n.770-21T>C | |
| ENST00000700269.1:c.770-21T>C | ENSP00000514905.1:n.770-21T>C | |
| ENST00000700270.1:n.1026-21T>C | ||
| ENST00000700271.1:c.758-21T>C | ENSP00000514906.1:n.758-21T>C | |
| ENST00000700272.1:c.*714-21T>C | ENSP00000514907.1:n.*714-21T>C | |
| ENST00000700273.1:c.758-21T>C | ENSP00000514908.1:n.758-21T>C | |
| ENST00000700302.1:c.770-21T>C | ENSP00000514929.1:n.770-21T>C | |
| ENST00000700303.1:c.*432-21T>C | ENSP00000514930.1:n.*432-21T>C | |
| ENST00000700304.1:c.*714-21T>C | ENSP00000514931.1:n.*714-21T>C | |
| ENST00000700305.1:c.*328-21T>C | ENSP00000514932.1:n.*328-21T>C | |
| ENST00000700306.1:c.770-21T>C | ENSP00000514933.1:n.770-21T>C | |
| ENST00000700307.1:c.769+5146T>C | ENSP00000514934.1:n.769+5146T>C | |
| ENST00000700308.1:c.*714-21T>C | ENSP00000514935.1:n.*714-21T>C | |
| ENST00000700309.1:c.*859-21T>C | ENSP00000514936.1:n.*859-21T>C | |
| ENST00000700310.1:c.757+5146T>C | ENSP00000514937.1:n.757+5146T>C | |
| ENST00000700311.1:c.770-21T>C | ENSP00000514938.1:n.770-21T>C | |
| ENST00000700312.1:c.521-21T>C | ENSP00000514939.1:n.521-21T>C | |
| ENST00000700313.1:c.758-21T>C | ENSP00000514940.1:n.758-21T>C | |
| ENST00000700314.1:c.*709-21T>C | ENSP00000514941.1:n.*709-21T>C | |
| ENST00000700315.1:c.*328-21T>C | ENSP00000514942.1:n.*328-21T>C | |
| ENST00000700316.1:c.*550-21T>C | ENSP00000514943.1:n.*550-21T>C | |
| ENST00000700317.1:c.770-21T>C | ENSP00000514944.1:n.770-21T>C | |
| ENST00000700318.1:c.*432-21T>C | ENSP00000514945.1:n.*432-21T>C | |
| ENST00000700319.1:c.*210-21T>C | ENSP00000514946.1:n.*210-21T>C | |
| ENST00000700320.1:c.776T>C | ENSP00000514947.1:p.Phe259Ser | |
| ENST00000700321.1:c.770-21T>C | ENSP00000514948.1:n.770-21T>C | |
| ENST00000700322.1:c.758-21T>C | ENSP00000514949.1:n.758-21T>C | |
| ENST00000700323.1:c.770-21T>C | ENSP00000514950.1:n.770-21T>C | |
| ENST00000700324.1:c.758-21T>C | ENSP00000514951.1:n.758-21T>C | |
| ENST00000700375.1:c.770-21T>C | ENSP00000514966.1:n.770-21T>C | |
| ENST00000700377.1:c.*238-21T>C | ENSP00000514967.1:n.*238-21T>C | |
| ENST00000700378.1:c.770-21T>C | ENSP00000514968.1:n.770-21T>C | |
| ENST00000700379.1:n.1168-21T>C | ||
| ENST00000700389.1:c.758-21T>C | ENSP00000514970.1:n.758-21T>C | |
| ENST00000700390.1:n.2481-21T>C | ||
| ENST00000700404.1:n.1769-21T>C | ||
| ENST00000700433.1:n.1021-21T>C | ||
| ENST00000700434.1:n.1023-21T>C | ||
| ENST00000700435.1:n.905-21T>C | ||
| ENST00000700436.1:c.770-21T>C | ENSP00000514987.1:n.770-21T>C | |
| ENST00000700437.1:c.521-21T>C | ENSP00000514988.1:n.521-21T>C | |
| ENST00000700467.1:n.1027-21T>C | ||
| ENST00000700468.1:c.757+5146T>C | ENSP00000515001.1:n.757+5146T>C | |
| ENST00000700469.1:c.758-21T>C | ENSP00000515002.1:n.758-21T>C | |
| ENST00000324501.10:c.770-21T>C MANE Select | ENSP00000326366.5:n.770-21T>C | |
| ENST00000324501.9:c.770-21T>C | ENSP00000326366.5:n.770-21T>C | |
| ENST00000357710.8:c.758-21T>C | ENSP00000350342.4:n.758-21T>C | |
| ENST00000394164.5:c.758-21T>C | ENSP00000377719.1:n.758-21T>C | |
| ENST00000406768.1:c.494-21T>C | ENSP00000385948.1:n.494-21T>C | |
| ENST00000553855.5:c.770-21T>C | ENSP00000452242.1:n.770-21T>C | |
| ENST00000554995.1:n.301T>C | ||
| ENST00000555386.5:c.758-21T>C | ENSP00000450845.1:n.758-21T>C | |
| ENST00000557511.5:c.770-21T>C | ENSP00000451429.1:n.770-21T>C | |
| NM_000021.3:c.770-21T>C | NP_000012.1:n.770-21T>C | |
| NM_007318.2:c.758-21T>C | NP_015557.2:n.758-21T>C | |
| XM_005267864.1:c.770-21T>C | XP_005267921.1:n.770-21T>C | |
| XM_005267866.1:c.758-21T>C | XP_005267923.1:n.758-21T>C | |
| XM_011536971.1:c.770-21T>C | XP_011535273.1:n.770-21T>C | |
| XM_011536972.1:c.770-21T>C | XP_011535274.1:n.770-21T>C | |
| XM_011536973.1:c.758-21T>C | XP_011535275.1:n.758-21T>C | |
| XM_011536974.1:c.758-21T>C | XP_011535276.1:n.758-21T>C | |
| XM_005267864.3:c.770-21T>C | XP_005267921.1:n.770-21T>C | |
| XM_005267866.2:c.758-21T>C | XP_005267923.1:n.758-21T>C | |
| XM_011536972.2:c.770-21T>C | XP_011535274.1:n.770-21T>C | |
| XM_011536973.2:c.758-21T>C | XP_011535275.1:n.758-21T>C | |
| XM_011536974.2:c.758-21T>C | XP_011535276.1:n.758-21T>C | |
| NM_000021.4:c.770-21T>C MANE Select | NP_000012.1:n.770-21T>C | |
| NM_007318.3:c.758-21T>C | NP_015557.2:n.758-21T>C |