Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6374879G>A , CM000681.2:g.6374879G>A | GRCh38 |
| NC_000019.9:g.6374890G>A , CM000681.1:g.6374890G>A | GRCh37 |
| NC_000019.8:g.6325890G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032306.4:c.572G>A MANE Select | NP_115682.1:p.Arg191Gln |
| ENST00000245812.8:c.572G>A MANE Select | ENSP00000245812.2:p.Arg191Gln |
| NM_032306.3:c.572G>A | NP_115682.1:p.Arg191Gln |
| ENST00000245812.7:c.572G>A | ENSP00000245812.2:p.Arg191Gln |
| ENST00000596657.1:c.146G>A | ENSP00000470542.1:p.Arg49Gln |
| ENST00000599849.1:c.389G>A | ENSP00000470562.1:p.Arg130Gln |
| XM_005259658.3:c.494G>A | XP_005259715.1:p.Arg165Gln |
| XM_005259658.4:c.494G>A | XP_005259715.1:p.Arg165Gln |
| XM_017027355.1:c.793G>A | XP_016882844.1:p.Gly265Arg |