Linked Data
ClinVar Variation Id:
280091
dbSNP Id:
rs780587095
ExAC:
14:21794290 C / T
gnomAD v2:
14-21794290-C-T
gnomAD v4:
14-21326131-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21326131C>T , CM000676.2:g.21326131C>T | GRCh38 |
| NC_000014.8:g.21794290C>T , CM000676.1:g.21794290C>T | GRCh37 |
| NC_000014.7:g.20864130C>T | NCBI36 |
| NG_008933.1:g.43155C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.2668C>T MANE Select | ENSP00000382895.2:p.Arg890Ter | |
| ENST00000382933.8:c.689-1492C>T | ENSP00000372391.4:n.689-1492C>T | |
| ENST00000400017.6:c.2668C>T | ENSP00000382895.2:p.Arg890Ter | |
| ENST00000553927.1:n.1600C>T | ||
| ENST00000555322.5:c.1095C>T | ||
| ENST00000555489.5:c.861C>T | ENSP00000451044.1:n.861C>T | |
| ENST00000555587.5:c.1093C>T | ENSP00000451262.1:p.Arg365Ter | |
| ENST00000556336.5:c.1682-1492C>T | ENSP00000450445.1:n.1682-1492C>T | |
| ENST00000557771.5:c.2554C>T | ENSP00000451219.1:p.Arg852Ter | |
| NM_020366.3:c.2668C>T | NP_065099.3:p.Arg890Ter | |
| XM_005267879.2:c.1594C>T | XP_005267936.1:p.Arg532Ter | |
| XM_005267880.2:c.1561C>T | XP_005267937.1:p.Arg521Ter | |
| XM_005267881.2:c.1042C>T | XP_005267938.1:p.Arg348Ter | |
| XM_011536978.1:c.1594C>T | XP_011535280.1:p.Arg532Ter | |
| XM_011536979.1:c.1378C>T | XP_011535281.1:p.Arg460Ter | |
| XM_011536980.1:c.1249C>T | XP_011535282.1:p.Arg417Ter | |
| XM_011536981.1:c.1141+1061C>T | XP_011535283.1:n.1141+1061C>T | |
| XM_011536982.1:c.796+1406C>T | XP_011535284.1:n.796+1406C>T | |
| XM_011536983.1:c.2635C>T | XP_011535285.1:p.Arg879Ter | |
| XM_005267881.3:c.1042C>T | XP_005267938.1:p.Arg348Ter | |
| XM_017021473.1:c.1141+1061C>T | XP_016876962.1:n.1141+1061C>T | |
| XM_024449663.1:c.1594C>T | XP_024305431.1:p.Arg532Ter | |
| XM_024449664.1:c.1141+1061C>T | XP_024305432.1:n.1141+1061C>T | |
| XM_024449665.1:c.796+1406C>T | XP_024305433.1:n.796+1406C>T | |
| XM_024449666.1:c.796+1406C>T | XP_024305434.1:n.796+1406C>T | |
| NM_001377523.1:c.689-1492C>T | NP_001364452.1:n.689-1492C>T | |
| NM_001377948.1:c.1594C>T | NP_001364877.1:p.Arg532Ter | |
| NM_001377949.1:c.796+1406C>T | NP_001364878.1:n.796+1406C>T | |
| NM_001377950.1:c.689-1492C>T | NP_001364879.1:n.689-1492C>T | |
| NM_001377951.1:c.191-1492C>T | NP_001364880.1:n.191-1492C>T | |
| NM_020366.4:c.2668C>T MANE Select | NP_065099.3:p.Arg890Ter |