ClinVar RCV:
ClinVar Variation:
gnomAD v4:
Revel Score:
ENST00000056217 (MANE Select)
0.068
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.144363661A>G , CM000669.2:g.144363661A>G | GRCh38 |
| NC_000007.13:g.144060754A>G , CM000669.1:g.144060754A>G | GRCh37 |
| NC_000007.12:g.143691687A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000056217.10:c.992A>G MANE Select | ENSP00000056217.5:p.Gln331Arg | |
| ENST00000056217.9:c.992A>G | ENSP00000056217.5:p.Gln331Arg | |
| ENST00000498580.5:c.184+808A>G | ENSP00000417979.1:n.184+808A>G | |
| NM_005435.3:c.992A>G | NP_005426.2:p.Gln331Arg | |
| XM_017012623.2:c.992A>G | XP_016868112.1:p.Gln331Arg | |
| NM_005435.4:c.992A>G MANE Select | NP_005426.2:p.Gln331Arg |