Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4912182G= , CM000674.2:g.4912182G= | GRCh38 |
| NC_000012.11:g.5021348G= , CM000674.1:g.5021348G= | GRCh37 |
| NC_000012.10:g.4891609G= | NCBI36 |
| NG_011815.1:g.7276G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382545.5:c.804G= MANE Select | ENSP00000371985.3:p.Thr268= | |
| ENST00000543874.3:n.105+1710G= | ||
| ENST00000639306.1:c.642G= | ENSP00000492506.1:p.Thr214= | |
| ENST00000382545.3:c.804G= | ENSP00000371985.3:p.Thr268= | |
| ENST00000541095.1:n.105+1710G= | ||
| ENST00000543874.2:n.96+1710G= | ||
| NM_000217.2:c.804G= | NP_000208.2:p.Thr268= | |
| NM_000217.3:c.804G= MANE Select | NP_000208.2:p.Thr268= |