ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.04969089 (EAS)
Genomes Max Group AF
0.06873322 (EAS)
Exomes Max Group AF
0.04657783 (EAS)
Revel Score:
ENST00000368115
0.019
ENST00000368114
0.019
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.159304102A>G , CM000663.2:g.159304102A>G | GRCh38 |
| NC_000001.10:g.159273892A>G , CM000663.1:g.159273892A>G | GRCh37 |
| NC_000001.9:g.157540516A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000693622.1:c.251A>G MANE Select | ENSP00000509626.1:p.Lys84Arg | |
| ENST00000368114.1:c.152A>G | ENSP00000357096.1:p.Lys51Arg | |
| ENST00000368115.5:c.251A>G | ENSP00000357097.1:p.Lys84Arg | |
| NM_002001.3:c.251A>G | NP_001992.1:p.Lys84Arg | |
| NM_001387280.1:c.251A>G MANE Select | NP_001374209.1:p.Lys84Arg | |
| NM_001387281.1:c.76+1228A>G | NP_001374210.1:n.76+1228A>G | |
| NM_001387282.1:c.152A>G | NP_001374211.1:p.Lys51Arg | |
| NM_002001.4:c.251A>G | NP_001992.1:p.Lys84Arg |