Linked Data
ClinVar Variation Id:
1156312
ClinVar RCV Id:
RCV001498948
dbSNP Id:
rs1057104935
gnomAD v2:
21-45712181-G-A
gnomAD v3:
21-44292298-G-A
gnomAD v4:
21-44292298-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44292298G>A , CM000683.2:g.44292298G>A | GRCh38 |
| NC_000021.8:g.45712181G>A , CM000683.1:g.45712181G>A | GRCh37 |
| NC_000021.7:g.44536609G>A | NCBI36 |
| NG_009556.1:g.11419G>A , LRG_18:g.11419G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.996-4G>A MANE Select | ENSP00000291582.5:n.996-4G>A | |
| ENST00000291582.5:c.996-4G>A | ENSP00000291582.5:n.996-4G>A | |
| ENST00000337909.5:n.457-4G>A | ||
| ENST00000397994.8:n.457-4G>A | ||
| ENST00000527919.5:n.1726-4G>A | ||
| ENST00000530812.5:n.2743-4G>A | ||
| NM_000383.3:c.996-4G>A | NP_000374.1:n.996-4G>A | |
| XM_011529551.1:c.993-4G>A | XP_011527853.1:n.993-4G>A | |
| NM_000383.4:c.996-4G>A MANE Select | NP_000374.1:n.996-4G>A |