Linked Data
ClinVar Variation Id:
1398945
ClinVar RCV Id:
RCV001922690
dbSNP Id:
rs747575530
ExAC:
14:21792959 C / A
gnomAD v2:
14-21792959-C-A
gnomAD v4:
14-21324800-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21324800C>A , CM000676.2:g.21324800C>A | GRCh38 |
| NC_000014.8:g.21792959C>A , CM000676.1:g.21792959C>A | GRCh37 |
| NC_000014.7:g.20862799C>A | NCBI36 |
| NG_008933.1:g.41824C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.1945C>A MANE Select | ENSP00000382895.2:p.Gln649Lys | |
| ENST00000382933.8:c.688+2796C>A | ENSP00000372391.4:n.688+2796C>A | |
| ENST00000400017.6:c.1945C>A | ENSP00000382895.2:p.Gln649Lys | |
| ENST00000553500.5:n.328+75C>A | ||
| ENST00000553927.1:n.877C>A | ||
| ENST00000554303.1:c.331C>A | ENSP00000450426.1:p.Gln111Lys | |
| ENST00000555322.5:c.372C>A | ||
| ENST00000555489.5:c.213-75C>A | ENSP00000451044.1:n.213-75C>A | |
| ENST00000555587.5:c.370C>A | ENSP00000451262.1:p.Gln124Lys | |
| ENST00000556336.5:c.1681+2796C>A | ENSP00000450445.1:n.1681+2796C>A | |
| ENST00000557771.5:c.1831C>A | ENSP00000451219.1:p.Gln611Lys | |
| NM_020366.3:c.1945C>A | NP_065099.3:p.Gln649Lys | |
| XM_005267879.2:c.871C>A | XP_005267936.1:p.Gln291Lys | |
| XM_005267880.2:c.838C>A | XP_005267937.1:p.Gln280Lys | |
| XM_005267881.2:c.319C>A | XP_005267938.1:p.Gln107Lys | |
| XM_011536978.1:c.871C>A | XP_011535280.1:p.Gln291Lys | |
| XM_011536979.1:c.796+75C>A | XP_011535281.1:n.796+75C>A | |
| XM_011536980.1:c.796+75C>A | XP_011535282.1:n.796+75C>A | |
| XM_011536981.1:c.871C>A | XP_011535283.1:p.Gln291Lys | |
| XM_011536982.1:c.796+75C>A | XP_011535284.1:n.796+75C>A | |
| XM_011536983.1:c.1912C>A | XP_011535285.1:p.Gln638Lys | |
| XM_005267881.3:c.319C>A | XP_005267938.1:p.Gln107Lys | |
| XM_017021473.1:c.871C>A | XP_016876962.1:p.Gln291Lys | |
| XM_024449663.1:c.871C>A | XP_024305431.1:p.Gln291Lys | |
| XM_024449664.1:c.871C>A | XP_024305432.1:p.Gln291Lys | |
| XM_024449665.1:c.796+75C>A | XP_024305433.1:n.796+75C>A | |
| XM_024449666.1:c.796+75C>A | XP_024305434.1:n.796+75C>A | |
| NM_001377523.1:c.688+2796C>A | NP_001364452.1:n.688+2796C>A | |
| NM_001377948.1:c.871C>A | NP_001364877.1:p.Gln291Lys | |
| NM_001377949.1:c.796+75C>A | NP_001364878.1:n.796+75C>A | |
| NM_001377950.1:c.688+2796C>A | NP_001364879.1:n.688+2796C>A | |
| NM_001377951.1:c.190+2796C>A | NP_001364880.1:n.190+2796C>A | |
| NM_020366.4:c.1945C>A MANE Select | NP_065099.3:p.Gln649Lys |