Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96392234A= , CM000667.2:g.96392234A= | GRCh38 |
| NC_000005.9:g.95727938A= , CM000667.1:g.95727938A= | GRCh37 |
| NC_000005.8:g.95753694A= | NCBI36 |
| NG_021161.1:g.46048T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311106.8:c.*767T= MANE Select | ENSP00000308024.2:n.*767T= | |
| ENST00000311106.7:c.*767T= | ENSP00000308024.2:n.*767T= | |
| NM_000439.4:c.*767T= | NP_000430.3:n.*767T= | |
| NM_001177875.1:c.*767T= | NP_001171346.1:n.*767T= | |
| NR_130776.1:n.354+12582A= | ||
| NM_000439.5:c.*767T= MANE Select | NP_000430.3:n.*767T= | |
| NM_001177875.2:c.*767T= | NP_001171346.1:n.*767T= |