Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10286562C>T , CM000681.2:g.10286562C>T | GRCh38 |
| NC_000019.9:g.10397238C>T , CM000681.1:g.10397238C>T | GRCh37 |
| NC_000019.8:g.10258238C>T | NCBI36 |
| NG_007728.1:g.4589C>T | |
| NG_012083.1:g.20722C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264832.8:c.*1275C>T MANE Select | ENSP00000264832.2:n.*1275C>T | |
| ENST00000264832.7:c.*1275C>T | ENSP00000264832.2:n.*1275C>T | |
| NM_000201.2:c.*1275C>T | NP_000192.2:n.*1275C>T | |
| NM_000201.3:c.*1275C>T MANE Select | NP_000192.2:n.*1275C>T |