Revel Score:
ENST00000428762 (MANE Select)
0.270
ENST00000343529
0.270
ENST00000424685
0.270
ENST00000424828
0.270
ENST00000448171
0.270
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.103490747C>T , CM000669.2:g.103490747C>T | GRCh38 |
| NC_000007.13:g.103131194C>T , CM000669.1:g.103131194C>T | GRCh37 |
| NC_000007.12:g.102918430C>T | NCBI36 |
| NG_011877.1:g.503770G>A | |
| NG_011877.2:g.503770G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424685.3:c.9526G>A (RELN) | ENSP00000388446.3:p.Glu3176Lys | |
| ENST00000428762.6:c.9526G>A (RELN) MANE Select | ENSP00000392423.1:p.Glu3176Lys | |
| ENST00000679371.1:n.1283G>A (RELN) | ||
| ENST00000679867.1:n.9410G>A (RELN) | ||
| ENST00000680248.1:n.3078G>A (RELN) | ||
| ENST00000681034.1:c.9526G>A (RELN) | ENSP00000506075.1:p.Glu3176Lys | |
| ENST00000681364.1:n.2775G>A (RELN) | ||
| ENST00000681921.1:n.3750G>A (RELN) | ||
| ENST00000343529.9:c.9526G>A (RELN) | ENSP00000345694.5:p.Glu3176Lys | |
| ENST00000424685.2:c.9526G>A (RELN) | ENSP00000388446.2:p.Glu3176Lys | |
| ENST00000428762.5:c.9526G>A (RELN) | ENSP00000392423.1:p.Glu3176Lys | |
| NM_005045.3:c.9526G>A (RELN) | NP_005036.2:p.Glu3176Lys | |
| NM_173054.2:c.9526G>A (RELN) | NP_774959.1:p.Glu3176Lys | |
| NR_110141.1:n.1366-13657C>T (SLC26A5-AS1) | ||
| NM_005045.4:c.9526G>A (RELN) MANE Select | NP_005036.2:p.Glu3176Lys | |
| NM_173054.3:c.9526G>A (RELN) | NP_774959.1:p.Glu3176Lys |