Revel Score:
ENST00000249071 (MANE Select)
0.867
ENST00000406508
0.867
ENST00000405484
0.867
ENST00000441619
0.867
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37232857C>T , CM000684.2:g.37232857C>T | GRCh38 |
| NC_000022.10:g.37628897C>T , CM000684.1:g.37628897C>T | GRCh37 |
| NC_000022.9:g.35958843C>T | NCBI36 |
| NG_007288.1:g.16409G>A , LRG_97:g.16409G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699915.1:n.227G>A | ||
| ENST00000249071.11:c.169G>A MANE Select | ENSP00000249071.6:p.Asp57Asn | |
| ENST00000249071.10:c.169G>A | ENSP00000249071.6:p.Asp57Asn | |
| ENST00000405484.5:c.148G>A | ENSP00000385590.1:p.Asp50Asn | |
| ENST00000406508.5:c.37G>A | ENSP00000385270.1:p.Asp13Asn | |
| ENST00000441619.5:c.169G>A | ENSP00000403778.1:p.Asp57Asn | |
| ENST00000469532.1:n.299G>A | ||
| NM_002872.4:c.169G>A | NP_002863.1:p.Asp57Asn | |
| XM_006724286.2:c.169G>A | XP_006724349.1:p.Asp57Asn | |
| XM_006724286.3:c.169G>A | XP_006724349.1:p.Asp57Asn | |
| NM_002872.5:c.169G>A MANE Select | NP_002863.1:p.Asp57Asn |