MyVariant.info:
GRCh38
chr9:g.133352446G>A
gnomAD v4:
Joint Max Group AF
0.00001425 (SAS)
Exomes Max Group AF
0.00001583 (SAS)
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133352446G>A , CM000671.2:g.133352446G>A | GRCh38 |
| NC_000009.10:g.135209122G>A | NCBI36 |
| NG_008477.1:g.9061C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371974.8:c.751C>T MANE Select | ENSP00000361042.3:p.Gln251Ter | |
| ENST00000371974.7:c.751C>T | ENSP00000361042.3:p.Gln251Ter | |
| ENST00000437995.1:n.661C>T | ||
| ENST00000495952.5:n.741C>T | ||
| ENST00000615505.4:c.424C>T | ENSP00000482067.1:p.Gln142Ter | |
| NM_001280787.1:c.424C>T | NP_001267716.1:p.Gln142Ter | |
| NM_003172.3:c.751C>T | NP_003163.1:p.Gln251Ter | |
| XM_011518942.1:c.424C>T | XP_011517244.1:p.Gln142Ter | |
| NM_003172.4:c.751C>T MANE Select | NP_003163.1:p.Gln251Ter |