Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.207698945T= , CM000663.2:g.207698945T= | GRCh38 |
| NC_000001.10:g.207872290T= , CM000663.1:g.207872290T= | GRCh37 |
| NC_000001.9:g.205938913T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000508064.7:c.1143-244T= MANE Select | ENSP00000421736.2:n.1143-244T= | |
| ENST00000294997.10:c.975-244T= | ENSP00000434864.1:n.975-244T= | |
| ENST00000508064.6:c.1143-244T= | ENSP00000421736.2:n.1143-244T= | |
| ENST00000530905.1:n.494-11437T= | ||
| NM_175710.1:c.1143-244T= | NP_783641.1:n.1143-244T= | |
| NM_175710.2:c.1143-244T= MANE Select | NP_783641.1:n.1143-244T= |