Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94007648G= , CM000663.2:g.94007648G= | GRCh38 |
| NC_000001.10:g.94473204G= , CM000663.1:g.94473204G= | GRCh37 |
| NC_000001.9:g.94245792G= | NCBI36 |
| NG_009073.1:g.118502C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.5991C= MANE Select | ENSP00000359245.3:p.Thr1997= | |
| ENST00000370225.3:c.5991C= | ENSP00000359245.3:p.Thr1997= | |
| ENST00000465352.1:n.407C= | ||
| ENST00000484388.1:n.105C= | ||
| ENST00000536513.5:c.2367C= | ENSP00000439707.2:p.Thr789= | |
| NM_000350.2:c.5991C= | NP_000341.2:p.Thr1997= | |
| NM_000350.3:c.5991C= MANE Select | NP_000341.2:p.Thr1997= |