Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68431341A= , CM000663.2:g.68431341A= | GRCh38 |
| NC_000001.10:g.68897024A= , CM000663.1:g.68897024A= | GRCh37 |
| NC_000001.9:g.68669612A= | NCBI36 |
| NG_008472.1:g.23619T= | |
| NG_008472.2:g.23619T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1279T= MANE Select | ENSP00000262340.5:p.Cys427= | |
| ENST00000262340.5:c.1279T= | ENSP00000262340.5:p.Cys427= | |
| NM_000329.2:c.1279T= | NP_000320.1:p.Cys427= | |
| XM_017002027.1:c.1003T= | XP_016857516.1:p.Cys335= | |
| NM_000329.3:c.1279T= MANE Select | NP_000320.1:p.Cys427= |