Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.20368782C>T , CM000674.2:g.20368782C>T | GRCh38 |
| NC_000012.11:g.20521716C>T , CM000674.1:g.20521716C>T | GRCh37 |
| NC_000012.10:g.20412983C>T | NCBI36 |
| NG_030033.1:g.4538C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359062.4:c.-503C>T MANE Select | ENSP00000351957.3:n.-503C>T | |
| XM_006719086.2:c.-503C>T | XP_006719149.2:n.-503C>T | |
| NM_000921.5:c.-503C>T MANE Select | NP_000912.3:n.-503C>T | |
| NM_001378407.1:c.-503C>T | NP_001365336.1:n.-503C>T | |
| NM_001378408.1:c.-1531C>T | NP_001365337.1:n.-1531C>T |