Linked Data
ClinVar Variation Id:
660465
ClinVar RCV Id:
RCV000817661
dbSNP Id:
rs771869485
ExAC:
7:103124104 G / A
gnomAD v3:
7-103483657-G-A
gnomAD v4:
7-103483657-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.103483657G>A , CM000669.2:g.103483657G>A | GRCh38 |
| NC_000007.13:g.103124104G>A , CM000669.1:g.103124104G>A | GRCh37 |
| NC_000007.12:g.102911340G>A | NCBI36 |
| NG_011877.1:g.510860C>T | |
| NG_011877.2:g.510860C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424685.3:c.10177C>T (RELN) | ENSP00000388446.3:p.Pro3393Ser | |
| ENST00000428762.6:c.10177C>T (RELN) MANE Select | ENSP00000392423.1:p.Pro3393Ser | |
| ENST00000429186.2:c.88C>T (RELN) | ENSP00000404818.2:p.Pro30Ser | |
| ENST00000679371.1:n.1934C>T (RELN) | ||
| ENST00000679867.1:n.10061C>T (RELN) | ||
| ENST00000680248.1:n.3729C>T (RELN) | ||
| ENST00000681034.1:c.10177C>T (RELN) | ENSP00000506075.1:p.Pro3393Ser | |
| ENST00000681364.1:n.3426C>T (RELN) | ||
| ENST00000681921.1:n.4401C>T (RELN) | ||
| ENST00000343529.9:c.10177C>T (RELN) | ENSP00000345694.5:p.Pro3393Ser | |
| ENST00000424685.2:c.10177C>T (RELN) | ENSP00000388446.2:p.Pro3393Ser | |
| ENST00000428762.5:c.10177C>T (RELN) | ENSP00000392423.1:p.Pro3393Ser | |
| ENST00000473945.1:n.255C>T (RELN) | ||
| NM_005045.3:c.10177C>T (RELN) | NP_005036.2:p.Pro3393Ser | |
| NM_173054.2:c.10177C>T (RELN) | NP_774959.1:p.Pro3393Ser | |
| NR_110141.1:n.1366-20747G>A (SLC26A5-AS1) | ||
| NM_005045.4:c.10177C>T (RELN) MANE Select | NP_005036.2:p.Pro3393Ser | |
| NM_173054.3:c.10177C>T (RELN) | NP_774959.1:p.Pro3393Ser |