Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128395230A= , CM000667.2:g.128395230A= | GRCh38 |
| NC_000005.9:g.127730923A= , CM000667.1:g.127730923A= | GRCh37 |
| NC_000005.8:g.127758822A= | NCBI36 |
| NG_008750.1:g.147813T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001999.4:c.1123T= MANE Select | NP_001990.2:p.Cys375= |
| ENST00000262464.9:c.1123T= MANE Select | ENSP00000262464.4:p.Cys375= |
| NM_001999.3:c.1123T= | NP_001990.2:p.Cys375= |
| ENST00000262464.8:c.1123T= | ENSP00000262464.4:p.Cys375= |
| ENST00000508053.5:c.1123T= | ENSP00000424571.1:p.Cys375= |
| ENST00000508989.5:c.1024T= | ENSP00000425596.1:p.Cys342= |
| ENST00000619499.4:c.1120T= | ENSP00000482132.1:p.Cys374= |
| ENST00000703787.1:n.830T= | |
| XM_017009228.2:c.1079-1862T= | XP_016864717.1:n.1079-1862T= |