Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133643474G= , CM000671.2:g.133643474G= | GRCh38 |
| NC_000009.11:g.136508596G= , CM000671.1:g.136508596G= | GRCh37 |
| NC_000009.10:g.135498417G= | NCBI36 |
| NG_008645.1:g.12112G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000787.4:c.806G= MANE Select | NP_000778.3:p.Cys269= |
| ENST00000393056.8:c.806G= MANE Select | ENSP00000376776.2:p.Cys269= |
| NM_000787.3:c.806G= | NP_000778.3:p.Cys269= |
| ENST00000263611.2:c.617G= | ENSP00000263611.2:p.Cys206= |
| ENST00000263611.3:c.653G= | ENSP00000263611.3:p.Cys218= |
| ENST00000393056.6:c.806G= | ENSP00000376776.2:p.Cys269= |