Linked Data
ClinVar Variation Id:
1030
ClinVar RCV Id:
RCV000001085
dbSNP Id:
rs796051855
gnomAD v4:
7-258645-G-A
PubMed:
PMID:17924334
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.258645G>A , CM000669.2:g.258645G>A | GRCh38 |
| NC_000007.13:g.298611G>A , CM000669.1:g.298611G>A | GRCh37 |
| NG_033970.1:g.68281G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313766.6:c.1446-1G>A MANE Select | ENSP00000322323.5:n.1446-1G>A | |
| ENST00000313766.5:c.1446-1G>A | ENSP00000322323.5:n.1446-1G>A | |
| ENST00000515795.1:n.1103-1G>A | ||
| NM_020223.3:c.1446-1G>A | NP_064608.2:n.1446-1G>A | |
| XR_242097.3:n.1593-1G>A | ||
| XM_017012450.1:c.1707-1G>A | XP_016867939.1:n.1707-1G>A | |
| XM_017012451.1:c.1704-1G>A | XP_016867940.1:n.1704-1G>A | |
| XM_017012455.2:c.744-1G>A | XP_016867944.1:n.744-1G>A | |
| NM_020223.4:c.1446-1G>A MANE Select | NP_064608.2:n.1446-1G>A |