Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68431328T= , CM000663.2:g.68431328T= | GRCh38 |
| NC_000001.10:g.68897011T= , CM000663.1:g.68897011T= | GRCh37 |
| NC_000001.9:g.68669599T= | NCBI36 |
| NG_008472.1:g.23632A= | |
| NG_008472.2:g.23632A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000329.3:c.1292A= MANE Select | NP_000320.1:p.Tyr431= |
| ENST00000262340.6:c.1292A= MANE Select | ENSP00000262340.5:p.Tyr431= |
| NM_000329.2:c.1292A= | NP_000320.1:p.Tyr431= |
| ENST00000262340.5:c.1292A= | ENSP00000262340.5:p.Tyr431= |
| XM_017002027.1:c.1016A= | XP_016857516.1:p.Tyr339= |