Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.12084616G>A , CM000672.2:g.12084616G>A | GRCh38 |
| NC_000010.10:g.12126615G>A , CM000672.1:g.12126615G>A | GRCh37 |
| NC_000010.9:g.12166621G>A | NCBI36 |
| NG_033248.1:g.20700G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263035.9:c.387G>A MANE Select | ENSP00000263035.4:p.Gln129= | |
| ENST00000263035.8:c.387G>A | ENSP00000263035.4:p.Gln129= | |
| ENST00000437298.1:c.387G>A | ENSP00000388163.1:p.Gln129= | |
| ENST00000465617.1:n.105-2919G>A | ||
| NM_018706.6:c.387G>A | NP_061176.3:p.Gln129= | |
| NM_018706.7:c.387G>A MANE Select | NP_061176.4:p.Gln129= |