ClinVar Variation:
COSMIC:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.12570479 (EAS)
Genomes Max Group AF
0.14176655 (EAS)
Exomes Max Group AF
0.12268614 (EAS)
MyVariant.info:
GRCh38
chr9:g.133352593C>G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133352593C>G , CM000671.2:g.133352593C>G | GRCh38 |
| NC_000009.10:g.135209269C>G | NCBI36 |
| NG_008477.1:g.8914G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371974.8:c.604G>C MANE Select | ENSP00000361042.3:p.Asp202His | |
| ENST00000371974.7:c.604G>C | ENSP00000361042.3:p.Asp202His | |
| ENST00000437995.1:n.514G>C | ||
| ENST00000495952.5:n.594G>C | ||
| ENST00000615505.4:c.277G>C | ENSP00000482067.1:p.Asp93His | |
| NM_001280787.1:c.277G>C | NP_001267716.1:p.Asp93His | |
| NM_003172.3:c.604G>C | NP_003163.1:p.Asp202His | |
| XM_011518942.1:c.277G>C | XP_011517244.1:p.Asp93His | |
| NM_003172.4:c.604G>C MANE Select | NP_003163.1:p.Asp202His |