Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4734450A>C , CM000679.2:g.4734450A>C | GRCh38 |
| NC_000017.10:g.4637745A>C , CM000679.1:g.4637745A>C | GRCh37 |
| NC_000017.9:g.4584494A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293778.12:c.*53T>G MANE Select | ENSP00000293778.7:n.*53T>G | |
| ENST00000574412.6:c.*156T>G | ENSP00000459592.2:n.*156T>G | |
| ENST00000293778.10:c.*53T>G | ENSP00000293778.6:n.*53T>G | |
| ENST00000574412.5:c.*156T>G | ENSP00000459592.1:n.*156T>G | |
| ENST00000576153.5:n.609T>G | ||
| NM_022059.3:c.*53T>G | NP_071342.2:n.*53T>G | |
| NM_022059.4:c.*53T>G | NP_071342.2:n.*53T>G | |
| NM_001386809.1:c.*53T>G MANE Select | NP_001373738.1:n.*53T>G |