Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47348604C>T , CM000672.2:g.47348604C>T | GRCh38 |
| NC_000010.10:g.48390758G>A , CM000672.1:g.48390758G>A | GRCh37 |
| NC_000010.9:g.48010764G>A | NCBI36 |
| NG_029718.1:g.5234C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002900.3:c.120C>T MANE Select | NP_002891.1:p.Cys40= |
| ENST00000584701.2:c.120C>T MANE Select | ENSP00000463151.1:p.Cys40= |
| NM_002900.2:c.120C>T | NP_002891.1:p.Cys40= |
| ENST00000584701.1:c.120C>T | ENSP00000463151.1:p.Cys40= |