Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42929001G>C , CM000663.2:g.42929001G>C | GRCh38 |
| NC_000001.10:g.43394672G>C , CM000663.1:g.43394672G>C | GRCh37 |
| NC_000001.9:g.43167259G>C | NCBI36 |
| NG_008232.1:g.35176C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006516.4:c.1005C>G MANE Select | NP_006507.2:p.Thr335= |
| ENST00000426263.10:c.1005C>G MANE Select | ENSP00000416293.2:p.Thr335= |
| NM_006516.2:c.1005C>G | NP_006507.2:p.Thr335= |
| NM_006516.3:c.1005C>G | NP_006507.2:p.Thr335= |
| ENST00000426263.7:c.1005C>G | ENSP00000416293.2:p.Thr335= |
| ENST00000475162.3:c.415+1625C>G | |
| ENST00000630287.2:c.*320C>G | ENSP00000486694.1:n.*320C>G |
| ENST00000674545.1:n.499C>G | |
| ENST00000674765.1:c.1005C>G | ENSP00000501811.1:p.Thr335= |
| ENST00000675112.1:n.1306C>G | |
| ENST00000676254.1:n.1454C>G |