Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.82727662T= , CM000679.2:g.82727662T= | GRCh38 |
| NC_000017.10:g.80685538T= , CM000679.1:g.80685538T= | GRCh37 |
| NC_000017.9:g.78278827T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269373.11:c.*491T= MANE Select | ENSP00000269373.6:n.*491T= | |
| ENST00000269373.10:c.*491T= | ENSP00000269373.6:n.*491T= | |
| ENST00000571594.1:c.53+495T= | ENSP00000459751.1:n.53+495T= | |
| NM_024619.3:c.*491T= | NP_078895.2:n.*491T= | |
| NR_046408.1:n.1599T= | ||
| XM_024450948.1:c.*491T= | XP_024306716.1:n.*491T= | |
| NM_024619.4:c.*491T= MANE Select | NP_078895.2:n.*491T= | |
| NR_046408.2:n.1599T= |