ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001326 (AMR)
Exomes Max Group AF
0.00001779 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10639745T>C , CM000682.2:g.10639745T>C | GRCh38 |
| NC_000020.10:g.10620393T>C , CM000682.1:g.10620393T>C | GRCh37 |
| NC_000020.9:g.10568393T>C | NCBI36 |
| NG_007496.1:g.39302A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.3410A>G MANE Select | ENSP00000254958.4:p.Lys1137Arg | |
| ENST00000254958.9:c.3410A>G | ENSP00000254958.4:p.Lys1137Arg | |
| ENST00000423891.6:n.3276A>G | ||
| NM_000214.2:c.3410A>G | NP_000205.1:p.Lys1137Arg | |
| NM_000214.3:c.3410A>G MANE Select | NP_000205.1:p.Lys1137Arg |