Linked Data
ClinVar Variation Id:
1058868
ClinVar RCV Id:
RCV001368050
dbSNP Id:
rs377020451
ExAC:
14:21793097 C / A
gnomAD v2:
14-21793097-C-A
gnomAD v3:
14-21324938-C-A
gnomAD v4:
14-21324938-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21324938C>A , CM000676.2:g.21324938C>A | GRCh38 |
| NC_000014.8:g.21793097C>A , CM000676.1:g.21793097C>A | GRCh37 |
| NC_000014.7:g.20862937C>A | NCBI36 |
| NG_008933.1:g.41962C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.2083C>A MANE Select | ENSP00000382895.2:p.Gln695Lys | |
| ENST00000382933.8:c.689-2685C>A | ENSP00000372391.4:n.689-2685C>A | |
| ENST00000400017.6:c.2083C>A | ENSP00000382895.2:p.Gln695Lys | |
| ENST00000553500.5:n.328+213C>A | ||
| ENST00000553927.1:n.1015C>A | ||
| ENST00000555322.5:c.510C>A | ||
| ENST00000555489.5:c.276C>A | ENSP00000451044.1:n.276C>A | |
| ENST00000555587.5:c.508C>A | ENSP00000451262.1:p.Gln170Lys | |
| ENST00000556336.5:c.1682-2685C>A | ENSP00000450445.1:n.1682-2685C>A | |
| ENST00000557771.5:c.1969C>A | ENSP00000451219.1:p.Gln657Lys | |
| NM_020366.3:c.2083C>A | NP_065099.3:p.Gln695Lys | |
| XM_005267879.2:c.1009C>A | XP_005267936.1:p.Gln337Lys | |
| XM_005267880.2:c.976C>A | XP_005267937.1:p.Gln326Lys | |
| XM_005267881.2:c.457C>A | XP_005267938.1:p.Gln153Lys | |
| XM_011536978.1:c.1009C>A | XP_011535280.1:p.Gln337Lys | |
| XM_011536979.1:c.797-4C>A | XP_011535281.1:n.797-4C>A | |
| XM_011536980.1:c.796+213C>A | XP_011535282.1:n.796+213C>A | |
| XM_011536981.1:c.1009C>A | XP_011535283.1:p.Gln337Lys | |
| XM_011536982.1:c.796+213C>A | XP_011535284.1:n.796+213C>A | |
| XM_011536983.1:c.2050C>A | XP_011535285.1:p.Gln684Lys | |
| XM_005267881.3:c.457C>A | XP_005267938.1:p.Gln153Lys | |
| XM_017021473.1:c.1009C>A | XP_016876962.1:p.Gln337Lys | |
| XM_024449663.1:c.1009C>A | XP_024305431.1:p.Gln337Lys | |
| XM_024449664.1:c.1009C>A | XP_024305432.1:p.Gln337Lys | |
| XM_024449665.1:c.796+213C>A | XP_024305433.1:n.796+213C>A | |
| XM_024449666.1:c.796+213C>A | XP_024305434.1:n.796+213C>A | |
| NM_001377523.1:c.689-2685C>A | NP_001364452.1:n.689-2685C>A | |
| NM_001377948.1:c.1009C>A | NP_001364877.1:p.Gln337Lys | |
| NM_001377949.1:c.796+213C>A | NP_001364878.1:n.796+213C>A | |
| NM_001377950.1:c.689-2685C>A | NP_001364879.1:n.689-2685C>A | |
| NM_001377951.1:c.191-2685C>A | NP_001364880.1:n.191-2685C>A | |
| NM_020366.4:c.2083C>A MANE Select | NP_065099.3:p.Gln695Lys |