Linked Data
ClinVar Variation Id:
883035
dbSNP Id:
rs543867152
ExAC:
14:21793077 C / T
gnomAD v2:
14-21793077-C-T
gnomAD v3:
14-21324918-C-T
gnomAD v4:
14-21324918-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21324918C>T , CM000676.2:g.21324918C>T | GRCh38 |
| NC_000014.8:g.21793077C>T , CM000676.1:g.21793077C>T | GRCh37 |
| NC_000014.7:g.20862917C>T | NCBI36 |
| NG_008933.1:g.41942C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.2063C>T MANE Select | ENSP00000382895.2:p.Ser688Leu | |
| ENST00000382933.8:c.689-2705C>T | ENSP00000372391.4:n.689-2705C>T | |
| ENST00000400017.6:c.2063C>T | ENSP00000382895.2:p.Ser688Leu | |
| ENST00000553500.5:n.328+193C>T | ||
| ENST00000553927.1:n.995C>T | ||
| ENST00000555322.5:c.490C>T | ||
| ENST00000555489.5:c.256C>T | ENSP00000451044.1:n.256C>T | |
| ENST00000555587.5:c.488C>T | ENSP00000451262.1:p.Ser163Leu | |
| ENST00000556336.5:c.1682-2705C>T | ENSP00000450445.1:n.1682-2705C>T | |
| ENST00000557771.5:c.1949C>T | ENSP00000451219.1:p.Ser650Leu | |
| NM_020366.3:c.2063C>T | NP_065099.3:p.Ser688Leu | |
| XM_005267879.2:c.989C>T | XP_005267936.1:p.Ser330Leu | |
| XM_005267880.2:c.956C>T | XP_005267937.1:p.Ser319Leu | |
| XM_005267881.2:c.437C>T | XP_005267938.1:p.Ser146Leu | |
| XM_011536978.1:c.989C>T | XP_011535280.1:p.Ser330Leu | |
| XM_011536979.1:c.797-24C>T | XP_011535281.1:n.797-24C>T | |
| XM_011536980.1:c.796+193C>T | XP_011535282.1:n.796+193C>T | |
| XM_011536981.1:c.989C>T | XP_011535283.1:p.Ser330Leu | |
| XM_011536982.1:c.796+193C>T | XP_011535284.1:n.796+193C>T | |
| XM_011536983.1:c.2030C>T | XP_011535285.1:p.Ser677Leu | |
| XM_005267881.3:c.437C>T | XP_005267938.1:p.Ser146Leu | |
| XM_017021473.1:c.989C>T | XP_016876962.1:p.Ser330Leu | |
| XM_024449663.1:c.989C>T | XP_024305431.1:p.Ser330Leu | |
| XM_024449664.1:c.989C>T | XP_024305432.1:p.Ser330Leu | |
| XM_024449665.1:c.796+193C>T | XP_024305433.1:n.796+193C>T | |
| XM_024449666.1:c.796+193C>T | XP_024305434.1:n.796+193C>T | |
| NM_001377523.1:c.689-2705C>T | NP_001364452.1:n.689-2705C>T | |
| NM_001377948.1:c.989C>T | NP_001364877.1:p.Ser330Leu | |
| NM_001377949.1:c.796+193C>T | NP_001364878.1:n.796+193C>T | |
| NM_001377950.1:c.689-2705C>T | NP_001364879.1:n.689-2705C>T | |
| NM_001377951.1:c.191-2705C>T | NP_001364880.1:n.191-2705C>T | |
| NM_020366.4:c.2063C>T MANE Select | NP_065099.3:p.Ser688Leu |