Linked Data
ClinVar Variation Id:
1014284
ClinVar RCV Id:
RCV001312996
dbSNP Id:
rs766401565
ExAC:
7:103113269 C / T
gnomAD v2:
7-103113269-C-T
gnomAD v3:
7-103472822-C-T
gnomAD v4:
7-103472822-C-T
COSMIC:
COSM5565692
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.103472822C>T , CM000669.2:g.103472822C>T | GRCh38 |
| NC_000007.13:g.103113269C>T , CM000669.1:g.103113269C>T | GRCh37 |
| NC_000007.12:g.102900505C>T | NCBI36 |
| NG_011877.1:g.521695G>A | |
| NG_011877.2:g.521695G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424685.3:c.*93G>A (RELN) | ENSP00000388446.3:n.*93G>A | |
| ENST00000428762.6:c.10373G>A (RELN) MANE Select | ENSP00000392423.1:p.Arg3458Gln | |
| ENST00000429186.2:c.388G>A (RELN) | ENSP00000404818.2:n.388G>A | |
| ENST00000679371.1:n.2124G>A (RELN) | ||
| ENST00000680248.1:n.3919G>A (RELN) | ||
| ENST00000681034.1:c.*176G>A (RELN) | ENSP00000506075.1:n.*176G>A | |
| ENST00000681364.1:n.3616G>A (RELN) | ||
| ENST00000343529.9:c.10367G>A (RELN) | ENSP00000345694.5:p.Arg3456Gln | |
| ENST00000424685.2:c.10373G>A (RELN) | ENSP00000388446.2:p.Arg3458Gln | |
| ENST00000428762.5:c.10373G>A (RELN) | ENSP00000392423.1:p.Arg3458Gln | |
| ENST00000429186.1:c.299G>A (RELN) | ||
| NM_005045.3:c.10373G>A (RELN) | NP_005036.2:p.Arg3458Gln | |
| NM_173054.2:c.10367G>A (RELN) | NP_774959.1:p.Arg3456Gln | |
| NR_110141.1:n.1365+26154C>T (SLC26A5-AS1) | ||
| NM_005045.4:c.10373G>A (RELN) MANE Select | NP_005036.2:p.Arg3458Gln | |
| NM_173054.3:c.10367G>A (RELN) | NP_774959.1:p.Arg3456Gln |