Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14978066C>A , CM000674.2:g.14978066C>A | GRCh38 |
| NC_000012.11:g.15131000C>A , CM000674.1:g.15131000C>A | GRCh37 |
| NC_000012.10:g.15022267C>A | NCBI36 |
| NG_016859.1:g.10045C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266395.3:c.54C>A MANE Select | ENSP00000266395.2:p.Thr18= | |
| ENST00000266395.2:c.54C>A | ENSP00000266395.2:p.Thr18= | |
| NM_006205.2:c.54C>A | NP_006196.1:p.Thr18= | |
| XR_931376.1:n.175+11421G>T | ||
| XM_017019431.2:c.54C>A | XP_016874920.1:p.Thr18= | |
| XR_931376.2:n.389+11421G>T | ||
| NM_006205.3:c.54C>A MANE Select | NP_006196.1:p.Thr18= |