Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131009504A>G , CM000671.2:g.131009504A>G | GRCh38 |
| NC_000009.11:g.133884891A>G , CM000671.1:g.133884891A>G | GRCh37 |
| NC_000009.10:g.132874712A>G | NCBI36 |
| NG_029800.1:g.5388A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006059.4:c.290A>G MANE Select | NP_006050.3:p.Gln97Arg |
| ENST00000361069.9:c.290A>G MANE Select | ENSP00000354360.4:p.Gln97Arg |
| NM_006059.3:c.290A>G | NP_006050.3:p.Gln97Arg |
| ENST00000361069.8:c.290A>G | ENSP00000354360.4:p.Gln97Arg |
| ENST00000480883.1:n.331A>G | |
| XM_006716921.1:c.290A>G | XP_006716984.1:p.Gln97Arg |
| XM_006716921.2:c.290A>G | XP_006716984.1:p.Gln97Arg |
| XM_011518121.1:c.290A>G | XP_011516423.1:p.Gln97Arg |