Revel Score:
ENST00000039007 (MANE Select)
0.726
gnomAD v4:
Joint Max Group AF
0.00001189 (NFE)
Exomes Max Group AF
0.00001278 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38408966C>A , CM000685.2:g.38408966C>A | GRCh38 |
| NC_000023.10:g.38268219C>A , CM000685.1:g.38268219C>A | GRCh37 |
| NC_000023.9:g.38153163C>A | NCBI36 |
| NG_008471.1:g.61484C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.808C>A MANE Select | ENSP00000039007.4:p.Gln270Lys | |
| ENST00000643344.1:c.*558C>A | ENSP00000496606.1:n.*558C>A | |
| ENST00000039007.4:c.808C>A | ENSP00000039007.4:p.Gln270Lys | |
| ENST00000465127.1:c.172-257155C>A | ENSP00000417050.1:n.172-257155C>A | |
| NM_000531.5:c.808C>A | NP_000522.3:p.Gln270Lys | |
| XM_017029556.1:c.808C>A | XP_016885045.1:p.Gln270Lys | |
| NM_000531.6:c.808C>A MANE Select | NP_000522.3:p.Gln270Lys |