Linked Data
ClinVar Variation Id:
1671772
ClinVar RCV Id:
RCV002199208
dbSNP Id:
rs781400305
ExAC:
21:45712179 G / A
gnomAD v2:
21-45712179-G-A
gnomAD v4:
21-44292296-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44292296G>A , CM000683.2:g.44292296G>A | GRCh38 |
| NC_000021.8:g.45712179G>A , CM000683.1:g.45712179G>A | GRCh37 |
| NC_000021.7:g.44536607G>A | NCBI36 |
| NG_009556.1:g.11417G>A , LRG_18:g.11417G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.996-6G>A MANE Select | ENSP00000291582.5:n.996-6G>A | |
| ENST00000291582.5:c.996-6G>A | ENSP00000291582.5:n.996-6G>A | |
| ENST00000337909.5:n.457-6G>A | ||
| ENST00000397994.8:n.457-6G>A | ||
| ENST00000527919.5:n.1726-6G>A | ||
| ENST00000530812.5:n.2743-6G>A | ||
| NM_000383.3:c.996-6G>A | NP_000374.1:n.996-6G>A | |
| XM_011529551.1:c.993-6G>A | XP_011527853.1:n.993-6G>A | |
| NM_000383.4:c.996-6G>A MANE Select | NP_000374.1:n.996-6G>A |