Linked Data
ClinVar Variation Id:
366696
ClinVar RCV Id:
RCV000292811
dbSNP Id:
rs886063883
gnomAD v2:
9-34646664-G-A
gnomAD v4:
9-34646667-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34646667G>A , CM000671.2:g.34646667G>A | GRCh38 |
| NC_000009.11:g.34646664G>A , CM000671.1:g.34646664G>A | GRCh37 |
| NC_000009.10:g.34636664G>A | NCBI36 |
| NG_009029.1:g.5030G>A | |
| NG_009029.2:g.5079G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.-38G>A | ENSP00000509954.1:n.-38G>A | |
| ENST00000378842.7:c.-38G>A | ENSP00000368119.3:n.-38G>A | |
| ENST00000450095.6:c.-240G>A | ENSP00000401956.2:n.-240G>A | |
| ENST00000468099.2:n.35G>A | ||
| ENST00000472111.5:n.4G>A | ||
| ENST00000473506.6:c.-38G>A | ENSP00000432839.2:n.-38G>A | |
| ENST00000473529.5:n.10G>A | ||
| ENST00000554139.5:n.16G>A | ||
| ENST00000554550.5:c.-38G>A | ENSP00000451435.1:n.-38G>A | |
| ENST00000556278.1:c.-38G>A | ENSP00000451792.1:n.-38G>A | |
| ENST00000557541.5:n.23G>A | ||
| ENST00000605275.1:n.209-10G>A | ||
| NM_000155.3:c.-38G>A | NP_000146.2:n.-38G>A | |
| NM_001258332.1:c.-240G>A | NP_001245261.1:n.-240G>A |