Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.68218095G>A , CM000664.2:g.68218095G>A | GRCh38 |
| NC_000002.11:g.68445227G>A , CM000664.1:g.68445227G>A | GRCh37 |
| NC_000002.10:g.68298731G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234310.8:c.4-964C>T MANE Select | ENSP00000234310.3:n.4-964C>T | |
| ENST00000234310.7:c.4-964C>T | ENSP00000234310.3:n.4-964C>T | |
| ENST00000406334.3:c.-27-964C>T | ENSP00000384974.3:n.-27-964C>T | |
| ENST00000409377.1:c.-27-964C>T | ENSP00000387148.1:n.-27-964C>T | |
| ENST00000409752.5:c.61-964C>T | ENSP00000387216.1:n.61-964C>T | |
| NM_000945.3:c.4-964C>T | NP_000936.1:n.4-964C>T | |
| NM_000945.4:c.4-964C>T MANE Select | NP_000936.1:n.4-964C>T |