Linked Data
ClinVar Variation Id:
1080601
ClinVar RCV Id:
RCV001396309
dbSNP Id:
rs568895777
ExAC:
21:45712178 C / A
gnomAD v2:
21-45712178-C-A
gnomAD v4:
21-44292295-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44292295C>A , CM000683.2:g.44292295C>A | GRCh38 |
| NC_000021.8:g.45712178C>A , CM000683.1:g.45712178C>A | GRCh37 |
| NC_000021.7:g.44536606C>A | NCBI36 |
| NG_009556.1:g.11416C>A , LRG_18:g.11416C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.996-7C>A MANE Select | ENSP00000291582.5:n.996-7C>A | |
| ENST00000291582.5:c.996-7C>A | ENSP00000291582.5:n.996-7C>A | |
| ENST00000337909.5:n.457-7C>A | ||
| ENST00000397994.8:n.457-7C>A | ||
| ENST00000527919.5:n.1726-7C>A | ||
| ENST00000530812.5:n.2743-7C>A | ||
| NM_000383.3:c.996-7C>A | NP_000374.1:n.996-7C>A | |
| XM_011529551.1:c.993-7C>A | XP_011527853.1:n.993-7C>A | |
| NM_000383.4:c.996-7C>A MANE Select | NP_000374.1:n.996-7C>A |