Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52515164G>A , CM000674.2:g.52515164G>A | GRCh38 |
| NC_000012.11:g.52908948G>A , CM000674.1:g.52908948G>A | GRCh37 |
| NC_000012.10:g.51195215G>A | NCBI36 |
| NG_008297.1:g.10296C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000424.4:c.1551C>T MANE Select | NP_000415.2:p.Gly517= |
| ENST00000252242.9:c.1551C>T MANE Select | ENSP00000252242.4:p.Gly517= |
| NM_000424.3:c.1551C>T | NP_000415.2:p.Gly517= |
| ENST00000252242.8:c.1551C>T | ENSP00000252242.4:p.Gly517= |
| ENST00000549511.5:n.758C>T | |
| ENST00000552952.1:n.476C>T |