Revel Score:
ENST00000537544
0.669
ENST00000231887 (MANE Select)
0.669
ENST00000440662
0.669
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.185254016C>T , CM000665.2:g.185254016C>T | GRCh38 |
| NC_000003.11:g.184971804C>T , CM000665.1:g.184971804C>T | GRCh37 |
| NC_000003.10:g.186454498C>T | NCBI36 |
| NG_015999.1:g.5083G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231887.8:c.7G>A MANE Select | ENSP00000231887.3:p.Glu3Lys | |
| ENST00000231887.7:c.7G>A | ENSP00000231887.3:p.Glu3Lys | |
| ENST00000440662.1:c.7G>A | ENSP00000396798.1:p.Glu3Lys | |
| ENST00000456310.5:c.-405G>A | ENSP00000387746.1:n.-405G>A | |
| ENST00000465178.1:n.228-5499G>A | ||
| ENST00000475987.1:n.34G>A | ||
| NM_001166415.1:c.-405G>A | NP_001159887.1:n.-405G>A | |
| NM_001966.3:c.7G>A | NP_001957.2:p.Glu3Lys | |
| XM_006713525.1:c.-649G>A | XP_006713588.1:n.-649G>A | |
| XM_011512517.1:c.-214-5499G>A | XP_011510819.1:n.-214-5499G>A | |
| NM_001966.4:c.7G>A MANE Select | NP_001957.2:p.Glu3Lys | |
| NM_001166415.2:c.-405G>A | NP_001159887.1:n.-405G>A |