Linked Data
ClinVar Variation Id:
16012
dbSNP Id:
rs606231221
gnomAD v2:
17-42428532-G-A
gnomAD v4:
17-44351164-G-A
PubMed:
PMID:16862116
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44351164G>A , CM000679.2:g.44351164G>A | GRCh38 |
| NC_000017.10:g.42428532G>A , CM000679.1:g.42428532G>A | GRCh37 |
| NC_000017.9:g.39784058G>A | NCBI36 |
| NG_007886.1:g.11042G>A , LRG_661:g.11042G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000053867.8:c.835+1G>A MANE Select | ENSP00000053867.2:n.835+1G>A | |
| ENST00000639447.1:c.835+1G>A | ENSP00000492014.1:n.835+1G>A | |
| ENST00000053867.7:c.835+1G>A | ENSP00000053867.2:n.835+1G>A | |
| ENST00000585348.1:n.254G>A | ||
| ENST00000586443.1:c.276+1G>A | ||
| ENST00000589265.5:c.463-386G>A | ENSP00000467616.1:n.463-386G>A | |
| ENST00000589923.1:n.93+64G>A | ||
| ENST00000590984.1:n.426G>A | ||
| NM_002087.3:c.835+1G>A | NP_002078.1:n.835+1G>A | |
| XM_005257253.1:c.835+1G>A | XP_005257310.1:n.835+1G>A | |
| XM_024450730.1:c.835+1G>A | XP_024306498.1:n.835+1G>A | |
| NM_002087.4:c.835+1G>A MANE Select | NP_002078.1:n.835+1G>A |