Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108084707G>A , CM000685.2:g.108084707G>A | GRCh38 |
| NC_000023.10:g.107327937G>A , CM000685.1:g.107327937G>A | GRCh37 |
| NC_000023.9:g.107214593G>A | NCBI36 |
| NG_012521.1:g.11912C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217958.8:c.*267C>T MANE Select | ENSP00000217958.3:n.*267C>T | |
| ENST00000217958.7:c.*267C>T | ENSP00000217958.3:n.*267C>T | |
| ENST00000372296.5:c.*413C>T | ENSP00000361370.1:n.*413C>T | |
| NM_002814.3:c.*267C>T | NP_002805.1:n.*267C>T | |
| NM_170750.2:c.*413C>T | NP_736606.1:n.*413C>T | |
| NM_002814.4:c.*267C>T MANE Select | NP_002805.1:n.*267C>T | |
| NM_170750.3:c.*413C>T | NP_736606.1:n.*413C>T |