Linked Data
ClinVar Variation Id:
1014204
dbSNP Id:
rs1192573356
gnomAD v2:
7-103124244-T-C
gnomAD v4:
7-103483797-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.103483797T>C , CM000669.2:g.103483797T>C | GRCh38 |
| NC_000007.13:g.103124244T>C , CM000669.1:g.103124244T>C | GRCh37 |
| NC_000007.12:g.102911480T>C | NCBI36 |
| NG_011877.1:g.510720A>G | |
| NG_011877.2:g.510720A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424685.3:c.10037A>G (RELN) | ENSP00000388446.3:p.Asn3346Ser | |
| ENST00000428762.6:c.10037A>G (RELN) MANE Select | ENSP00000392423.1:p.Asn3346Ser | |
| ENST00000679371.1:n.1794A>G (RELN) | ||
| ENST00000679867.1:n.9921A>G (RELN) | ||
| ENST00000680248.1:n.3589A>G (RELN) | ||
| ENST00000681034.1:c.10037A>G (RELN) | ENSP00000506075.1:p.Asn3346Ser | |
| ENST00000681364.1:n.3286A>G (RELN) | ||
| ENST00000681921.1:n.4261A>G (RELN) | ||
| ENST00000343529.9:c.10037A>G (RELN) | ENSP00000345694.5:p.Asn3346Ser | |
| ENST00000424685.2:c.10037A>G (RELN) | ENSP00000388446.2:p.Asn3346Ser | |
| ENST00000428762.5:c.10037A>G (RELN) | ENSP00000392423.1:p.Asn3346Ser | |
| ENST00000473945.1:n.115A>G (RELN) | ||
| NM_005045.3:c.10037A>G (RELN) | NP_005036.2:p.Asn3346Ser | |
| NM_173054.2:c.10037A>G (RELN) | NP_774959.1:p.Asn3346Ser | |
| NR_110141.1:n.1366-20607T>C (SLC26A5-AS1) | ||
| NM_005045.4:c.10037A>G (RELN) MANE Select | NP_005036.2:p.Asn3346Ser | |
| NM_173054.3:c.10037A>G (RELN) | NP_774959.1:p.Asn3346Ser |