Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68431321A= , CM000663.2:g.68431321A= | GRCh38 |
| NC_000001.10:g.68897004A= , CM000663.1:g.68897004A= | GRCh37 |
| NC_000001.9:g.68669592A= | NCBI36 |
| NG_008472.1:g.23639T= | |
| NG_008472.2:g.23639T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1299T= MANE Select | ENSP00000262340.5:p.Tyr433= | |
| ENST00000262340.5:c.1299T= | ENSP00000262340.5:p.Tyr433= | |
| NM_000329.2:c.1299T= | NP_000320.1:p.Tyr433= | |
| XM_017002027.1:c.1023T= | XP_016857516.1:p.Tyr341= | |
| NM_000329.3:c.1299T= MANE Select | NP_000320.1:p.Tyr433= |