gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000763 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00000741 (AMR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.103486247G>A , CM000669.2:g.103486247G>A | GRCh38 |
| NC_000007.13:g.103126694G>A , CM000669.1:g.103126694G>A | GRCh37 |
| NC_000007.12:g.102913930G>A | NCBI36 |
| NG_011877.1:g.508270C>T | |
| NG_011877.2:g.508270C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424685.3:c.9933C>T (RELN) | ENSP00000388446.3:p.Gly3311= | |
| ENST00000428762.6:c.9933C>T (RELN) MANE Select | ENSP00000392423.1:p.Gly3311= | |
| ENST00000679371.1:n.1690C>T (RELN) | ||
| ENST00000679867.1:n.9817C>T (RELN) | ||
| ENST00000680248.1:n.3485C>T (RELN) | ||
| ENST00000681034.1:c.9933C>T (RELN) | ENSP00000506075.1:p.Gly3311= | |
| ENST00000681364.1:n.3182C>T (RELN) | ||
| ENST00000681921.1:n.4157C>T (RELN) | ||
| ENST00000343529.9:c.9933C>T (RELN) | ENSP00000345694.5:p.Gly3311= | |
| ENST00000424685.2:c.9933C>T (RELN) | ENSP00000388446.2:p.Gly3311= | |
| ENST00000428762.5:c.9933C>T (RELN) | ENSP00000392423.1:p.Gly3311= | |
| ENST00000473945.1:n.11C>T (RELN) | ||
| NM_005045.3:c.9933C>T (RELN) | NP_005036.2:p.Gly3311= | |
| NM_173054.2:c.9933C>T (RELN) | NP_774959.1:p.Gly3311= | |
| NR_110141.1:n.1366-18157G>A (SLC26A5-AS1) | ||
| NM_005045.4:c.9933C>T (RELN) MANE Select | NP_005036.2:p.Gly3311= | |
| NM_173054.3:c.9933C>T (RELN) | NP_774959.1:p.Gly3311= |