Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94941750T= , CM000672.2:g.94941750T= | GRCh38 |
| NC_000010.10:g.96701507T= , CM000672.1:g.96701507T= | GRCh37 |
| NC_000010.9:g.96691497T= | NCBI36 |
| NG_008385.1:g.8093T= | |
| NG_008385.2:g.8593T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.169-108T= MANE Select | ENSP00000260682.6:n.169-108T= | |
| ENST00000643112.1:c.169-108T= | ENSP00000496202.1:n.169-108T= | |
| ENST00000645207.1:n.214T= | ||
| ENST00000260682.6:c.169-108T= | ENSP00000260682.6:n.169-108T= | |
| ENST00000461906.1:n.194-108T= | ||
| NM_000771.3:c.169-108T= | NP_000762.2:n.169-108T= | |
| NM_000771.4:c.169-108T= MANE Select | NP_000762.2:n.169-108T= |