Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.93218563G>A , CM000676.2:g.93218563G>A | GRCh38 |
| NC_000014.8:g.93684909G>A , CM000676.1:g.93684909G>A | GRCh37 |
| NC_000014.7:g.92754662G>A | NCBI36 |
| NG_051089.1:g.16508G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000013070.11:c.638G>A MANE Select | ENSP00000013070.6:p.Arg213Gln | |
| ENST00000013070.10:c.638G>A | ENSP00000013070.6:p.Arg213Gln | |
| ENST00000416753.5:c.410G>A | ENSP00000391706.2:p.Arg137Gln | |
| ENST00000553674.1:c.*339G>A | ENSP00000450470.1:n.*339G>A | |
| ENST00000553857.5:c.378+3282G>A | ||
| ENST00000556871.5:c.347G>A | ENSP00000451022.1:p.Arg116Gln | |
| ENST00000557048.1:n.547G>A | ||
| NM_175748.3:c.638G>A | NP_786924.2:p.Arg213Gln | |
| NR_038150.1:n.740G>A | ||
| NM_175748.4:c.638G>A MANE Select | NP_786924.2:p.Arg213Gln | |
| NR_038150.2:n.540G>A |