Revel Score:
ENST00000264079 (MANE Select)
0.227
ENST00000394321
0.227
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7530373C>A , CM000681.2:g.7530373C>A | GRCh38 |
| NC_000019.9:g.7595259C>A , CM000681.1:g.7595259C>A | GRCh37 |
| NC_000019.8:g.7501259C>A | NCBI36 |
| NG_013374.1:g.1222C>A | |
| NG_015806.1:g.12764C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1447C>A MANE Select | ENSP00000264079.5:p.Gln483Lys | |
| ENST00000264079.10:c.1447C>A | ENSP00000264079.5:p.Gln483Lys | |
| ENST00000394321.9:n.1762C>A | ||
| ENST00000594692.1:n.443C>A | ||
| ENST00000595860.5:n.630C>A | ||
| ENST00000599334.1:c.237-62C>A | ||
| NM_020533.2:c.1447C>A | NP_065394.1:p.Gln483Lys | |
| NM_020533.3:c.1447C>A MANE Select | NP_065394.1:p.Gln483Lys |