Revel Score:
ENST00000428762 (MANE Select)
0.437
ENST00000343529
0.437
ENST00000424685
0.437
ENST00000424828
0.437
ENST00000448171
0.437
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.103489846C>A , CM000669.2:g.103489846C>A | GRCh38 |
| NC_000007.13:g.103130293C>A , CM000669.1:g.103130293C>A | GRCh37 |
| NC_000007.12:g.102917529C>A | NCBI36 |
| NG_011877.1:g.504671G>T | |
| NG_011877.2:g.504671G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424685.3:c.9659G>T (RELN) | ENSP00000388446.3:p.Trp3220Leu | |
| ENST00000428762.6:c.9659G>T (RELN) MANE Select | ENSP00000392423.1:p.Trp3220Leu | |
| ENST00000679371.1:n.1416G>T (RELN) | ||
| ENST00000679867.1:n.9543G>T (RELN) | ||
| ENST00000680248.1:n.3211G>T (RELN) | ||
| ENST00000681034.1:c.9659G>T (RELN) | ENSP00000506075.1:p.Trp3220Leu | |
| ENST00000681364.1:n.2908G>T (RELN) | ||
| ENST00000681921.1:n.3883G>T (RELN) | ||
| ENST00000343529.9:c.9659G>T (RELN) | ENSP00000345694.5:p.Trp3220Leu | |
| ENST00000424685.2:c.9659G>T (RELN) | ENSP00000388446.2:p.Trp3220Leu | |
| ENST00000428762.5:c.9659G>T (RELN) | ENSP00000392423.1:p.Trp3220Leu | |
| NM_005045.3:c.9659G>T (RELN) | NP_005036.2:p.Trp3220Leu | |
| NM_173054.2:c.9659G>T (RELN) | NP_774959.1:p.Trp3220Leu | |
| NR_110141.1:n.1366-14558C>A (SLC26A5-AS1) | ||
| NM_005045.4:c.9659G>T (RELN) MANE Select | NP_005036.2:p.Trp3220Leu | |
| NM_173054.3:c.9659G>T (RELN) | NP_774959.1:p.Trp3220Leu |