Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133643517C>T , CM000671.2:g.133643517C>T | GRCh38 |
| NC_000009.11:g.136508639C>T , CM000671.1:g.136508639C>T | GRCh37 |
| NC_000009.10:g.135498460C>T | NCBI36 |
| NG_008645.1:g.12155C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000787.4:c.849C>T MANE Select | NP_000778.3:p.Cys283= |
| ENST00000393056.8:c.849C>T MANE Select | ENSP00000376776.2:p.Cys283= |
| NM_000787.3:c.849C>T | NP_000778.3:p.Cys283= |
| ENST00000263611.2:c.660C>T | ENSP00000263611.2:p.Cys220= |
| ENST00000263611.3:c.696C>T | ENSP00000263611.3:p.Cys232= |
| ENST00000393056.6:c.849C>T | ENSP00000376776.2:p.Cys283= |