Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218814034T>A , CM000664.2:g.218814034T>A | GRCh38 |
| NC_000002.11:g.219678757T>A , CM000664.1:g.219678757T>A | GRCh37 |
| NC_000002.10:g.219387001T>A | NCBI36 |
| NG_007959.1:g.37286T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.1031T>A MANE Select | ENSP00000258415.4:p.Leu344Gln | |
| ENST00000258415.8:c.1031T>A | ENSP00000258415.4:p.Leu344Gln | |
| ENST00000445971.1:c.*492T>A | ENSP00000404945.1:n.*492T>A | |
| ENST00000466602.1:n.1153T>A | ||
| ENST00000494263.5:n.1465T>A | ||
| NM_000784.3:c.1031T>A | NP_000775.1:p.Leu344Gln | |
| XM_017003488.2:c.611T>A | XP_016858977.1:p.Leu204Gln | |
| NM_000784.4:c.1031T>A MANE Select | NP_000775.1:p.Leu344Gln |