ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v3:
gnomAD v4:
Revel Score:
ENST00000530135
0.716
ENST00000329293 (MANE Select)
0.716
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.7509662A>G , CM000673.2:g.7509662A>G | GRCh38 |
| NC_000011.9:g.7530893A>G , CM000673.1:g.7530893A>G | GRCh37 |
| NC_000011.8:g.7487469A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329293.4:c.683A>G MANE Select | ENSP00000332511.3:p.His228Arg | |
| ENST00000329293.3:c.683A>G | ENSP00000332511.3:p.His228Arg | |
| ENST00000528758.1:c.*247A>G | ENSP00000434813.1:n.*247A>G | |
| ENST00000530135.5:c.683A>G | ENSP00000433455.1:p.His228Arg | |
| NM_198474.3:c.683A>G | NP_940876.2:p.His228Arg | |
| XM_005252878.3:c.683A>G | XP_005252935.1:p.His228Arg | |
| XM_005252878.4:c.683A>G | XP_005252935.1:p.His228Arg | |
| NM_198474.4:c.683A>G MANE Select | NP_940876.2:p.His228Arg | |
| NM_001370498.1:c.683A>G | NP_001357427.1:p.His228Arg | |
| NM_001370499.1:c.275A>G | NP_001357428.1:p.His92Arg |