Linked Data
ClinVar Variation Id:
1295479
ClinVar RCV Id:
RCV001722727
dbSNP Id:
rs736707
gnomAD v2:
7-103130403-A-G
gnomAD v3:
7-103489956-A-G
gnomAD v4:
7-103489956-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.103489956A>G , CM000669.2:g.103489956A>G | GRCh38 |
| NC_000007.13:g.103130403A>G , CM000669.1:g.103130403A>G | GRCh37 |
| NC_000007.12:g.102917639A>G | NCBI36 |
| NG_011877.1:g.504561T>C | |
| NG_011877.2:g.504561T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000424685.3:c.9606-57T>C (RELN) | ENSP00000388446.3:n.9606-57T>C | |
| ENST00000428762.6:c.9606-57T>C (RELN) MANE Select | ENSP00000392423.1:n.9606-57T>C | |
| ENST00000679371.1:n.1363-57T>C (RELN) | ||
| ENST00000679867.1:n.9490-57T>C (RELN) | ||
| ENST00000680248.1:n.3158-57T>C (RELN) | ||
| ENST00000681034.1:c.9606-57T>C (RELN) | ENSP00000506075.1:n.9606-57T>C | |
| ENST00000681364.1:n.2855-57T>C (RELN) | ||
| ENST00000681921.1:n.3830-57T>C (RELN) | ||
| ENST00000343529.9:c.9606-57T>C (RELN) | ENSP00000345694.5:n.9606-57T>C | |
| ENST00000424685.2:c.9606-57T>C (RELN) | ENSP00000388446.2:n.9606-57T>C | |
| ENST00000428762.5:c.9606-57T>C (RELN) | ENSP00000392423.1:n.9606-57T>C | |
| NM_005045.3:c.9606-57T>C (RELN) | NP_005036.2:n.9606-57T>C | |
| NM_173054.2:c.9606-57T>C (RELN) | NP_774959.1:n.9606-57T>C | |
| NR_110141.1:n.1366-14448A>G (SLC26A5-AS1) | ||
| NM_005045.4:c.9606-57T>C (RELN) MANE Select | NP_005036.2:n.9606-57T>C | |
| NM_173054.3:c.9606-57T>C (RELN) | NP_774959.1:n.9606-57T>C |