Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.134064381C>T , CM000669.2:g.134064381C>T | GRCh38 |
| NC_000007.13:g.133749134C>T , CM000669.1:g.133749134C>T | GRCh37 |
| NC_000007.12:g.133399674C>T | NCBI36 |
| NG_047176.1:g.816315C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253861.5:c.2778C>T MANE Select | ENSP00000253861.4:p.Ile926= | |
| ENST00000253861.4:c.2778C>T | ENSP00000253861.4:p.Ile926= | |
| ENST00000459626.1:n.515C>T | ||
| ENST00000466000.1:n.326C>T | ||
| ENST00000468932.1:n.64C>T | ||
| NM_021807.3:c.2778C>T | NP_068579.3:p.Ile926= | |
| XM_017012494.2:c.1608C>T | XP_016867983.1:p.Ile536= | |
| XR_001744845.2:n.2805C>T | ||
| NM_021807.4:c.2778C>T MANE Select | NP_068579.3:p.Ile926= |