Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18389023C>T , CM000681.2:g.18389023C>T | GRCh38 |
| NC_000019.9:g.18499833C>T , CM000681.1:g.18499833C>T | GRCh37 |
| NC_000019.8:g.18360833C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252809.3:c.*88C>T MANE Select | ENSP00000252809.3:n.*88C>T | |
| NM_004864.2:c.*88C>T | NP_004855.2:n.*88C>T | |
| NM_004864.3:c.*88C>T | NP_004855.2:n.*88C>T | |
| XM_024451789.1:c.*88C>T | XP_024307557.1:n.*88C>T | |
| NM_004864.4:c.*88C>T MANE Select | NP_004855.2:n.*88C>T |