Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52517617T>G , CM000674.2:g.52517617T>G | GRCh38 |
| NC_000012.11:g.52911401T>G , CM000674.1:g.52911401T>G | GRCh37 |
| NC_000012.10:g.51197668T>G | NCBI36 |
| NG_008297.1:g.7843A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000424.4:c.1065A>C MANE Select | NP_000415.2:p.Thr355= |
| ENST00000252242.9:c.1065A>C MANE Select | ENSP00000252242.4:p.Thr355= |
| NM_000424.3:c.1065A>C | NP_000415.2:p.Thr355= |
| ENST00000252242.8:c.1065A>C | ENSP00000252242.4:p.Thr355= |
| ENST00000547890.5:n.194A>C | |
| ENST00000548409.5:c.187A>C | |
| ENST00000549511.5:n.272A>C | |
| ENST00000551013.1:n.703A>C | |
| ENST00000551188.5:c.508A>C | |
| ENST00000552629.5:n.1163A>C |