Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133643475C>T , CM000671.2:g.133643475C>T | GRCh38 |
| NC_000009.11:g.136508597C>T , CM000671.1:g.136508597C>T | GRCh37 |
| NC_000009.10:g.135498418C>T | NCBI36 |
| NG_008645.1:g.12113C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000787.4:c.807C>T MANE Select | NP_000778.3:p.Cys269= |
| ENST00000393056.8:c.807C>T MANE Select | ENSP00000376776.2:p.Cys269= |
| NM_000787.3:c.807C>T | NP_000778.3:p.Cys269= |
| ENST00000263611.2:c.618C>T | ENSP00000263611.2:p.Cys206= |
| ENST00000263611.3:c.654C>T | ENSP00000263611.3:p.Cys218= |
| ENST00000393056.6:c.807C>T | ENSP00000376776.2:p.Cys269= |