Linked Data
ClinVar Variation Id:
1028
ClinVar RCV Id:
RCV000001083
dbSNP Id:
rs796051853
gnomAD v4:
7-257003-A-G
PubMed:
PMID:17924334
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.257003A>G , CM000669.2:g.257003A>G | GRCh38 |
| NC_000007.13:g.296969A>G , CM000669.1:g.296969A>G | GRCh37 |
| NG_033970.1:g.66639A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313766.6:c.1364-2A>G MANE Select | ENSP00000322323.5:n.1364-2A>G | |
| ENST00000313766.5:c.1364-2A>G | ENSP00000322323.5:n.1364-2A>G | |
| ENST00000512382.1:n.570-2A>G | ||
| ENST00000515795.1:n.1021-2A>G | ||
| NM_020223.3:c.1364-2A>G | NP_064608.2:n.1364-2A>G | |
| XR_242097.3:n.1511-2A>G | ||
| XM_017012450.1:c.1625-2A>G | XP_016867939.1:n.1625-2A>G | |
| XM_017012451.1:c.1622-2A>G | XP_016867940.1:n.1622-2A>G | |
| XM_017012455.2:c.662-2A>G | XP_016867944.1:n.662-2A>G | |
| NM_020223.4:c.1364-2A>G MANE Select | NP_064608.2:n.1364-2A>G |