Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44291112T= , CM000683.2:g.44291112T= | GRCh38 |
| NC_000021.8:g.45710995T= , CM000683.1:g.45710995T= | GRCh37 |
| NC_000021.7:g.44535423T= | NCBI36 |
| NG_009556.1:g.10233T= , LRG_18:g.10233T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.897T= MANE Select | ENSP00000291582.5:p.Cys299= | |
| ENST00000291582.5:c.897T= | ENSP00000291582.5:p.Cys299= | |
| ENST00000337909.5:n.358T= | ||
| ENST00000397994.8:n.358T= | ||
| ENST00000527919.5:n.1627T= | ||
| ENST00000530812.5:n.2644T= | ||
| NM_000383.3:c.897T= | NP_000374.1:p.Cys299= | |
| XM_011529551.1:c.894T= | XP_011527853.1:p.Cys298= | |
| NM_000383.4:c.897T= MANE Select | NP_000374.1:p.Cys299= |