Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35312462G>A , CM000668.2:g.35312462G>A | GRCh38 |
| NC_000006.11:g.35280239G>A , CM000668.1:g.35280239G>A | GRCh37 |
| NC_000006.10:g.35388217G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000444278.3:c.473G>A | ENSP00000415357.3:p.Arg158Gln | |
| ENST00000698929.1:c.423+1818G>A | ENSP00000514040.1:n.423+1818G>A | |
| ENST00000698930.1:c.*231G>A | ENSP00000514041.1:n.*231G>A | |
| ENST00000698931.1:n.608G>A | ||
| ENST00000316637.7:c.584G>A MANE Select | ENSP00000319831.5:p.Arg195Gln | |
| ENST00000316637.6:c.584G>A | ENSP00000319831.5:p.Arg195Gln | |
| ENST00000444278.2:c.309G>A | ||
| NM_022047.3:c.584G>A | NP_071330.3:p.Arg195Gln | |
| NM_022047.4:c.584G>A MANE Select | NP_071330.3:p.Arg195Gln |