ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0003569 (AMR)
Genomes Max Group AF
0.00021463 (AMR)
Exomes Max Group AF
0.00034735 (AMR)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.101275344T>C , CM000677.2:g.101275344T>C | GRCh38 |
| NC_000015.9:g.101815549T>C , CM000677.1:g.101815549T>C | GRCh37 |
| NC_000015.8:g.99633072T>C | NCBI36 |
| NG_013322.1:g.7152A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526049.6:c.229A>G MANE Select | ENSP00000433541.1:p.Lys77Glu | |
| ENST00000398226.7:c.229A>G | ENSP00000381282.3:p.Lys77Glu | |
| ENST00000526043.1:n.949A>G | ||
| ENST00000526049.5:c.229A>G | ENSP00000433541.1:p.Lys77Glu | |
| ENST00000527833.5:n.253A>G | ||
| ENST00000528346.1:c.349A>G | ENSP00000434842.1:p.Lys117Glu | |
| ENST00000529968.1:n.312A>G | ||
| ENST00000531964.5:c.160A>G | ENSP00000433803.1:p.Lys54Glu | |
| NM_018445.5:c.229A>G | NP_060915.2:p.Lys77Glu | |
| NM_203472.2:c.229A>G | NP_982298.2:p.Lys77Glu | |
| NM_018445.6:c.229A>G MANE Select | NP_060915.2:p.Lys77Glu | |
| NM_203472.3:c.229A>G | NP_982298.2:p.Lys77Glu |