Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1416113G= , CM000667.2:g.1416113G= | GRCh38 |
| NC_000005.9:g.1416228G= , CM000667.1:g.1416228G= | GRCh37 |
| NC_000005.8:g.1469228G= | NCBI36 |
| NG_015885.1:g.34316C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1016C= MANE Select | ENSP00000270349.9:p.Thr339= | |
| ENST00000270349.11:c.1016C= | ENSP00000270349.9:p.Thr339= | |
| ENST00000511750.1:n.466C= | ||
| NM_001044.4:c.1016C= | NP_001035.1:p.Thr339= | |
| NM_001044.5:c.1016C= MANE Select | NP_001035.1:p.Thr339= |