Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.61353181T= , CM000682.2:g.61353181T= | GRCh38 |
| NC_000020.10:g.59928237T= , CM000682.1:g.59928237T= | GRCh37 |
| NC_000020.9:g.59361632T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001794.5:c.169+98244T= MANE Select | NP_001785.2:n.169+98244T= |
| ENST00000614565.5:c.169+98244T= MANE Select | ENSP00000484928.1:n.169+98244T= |
| NM_001794.4:c.169+98244T= | NP_001785.2:n.169+98244T= |
| ENST00000614565.4:c.169+98244T= | ENSP00000484928.1:n.169+98244T= |