Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18389007C>T , CM000681.2:g.18389007C>T | GRCh38 |
| NC_000019.9:g.18499817C>T , CM000681.1:g.18499817C>T | GRCh37 |
| NC_000019.8:g.18360817C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252809.3:c.*72C>T MANE Select | ENSP00000252809.3:n.*72C>T | |
| NM_004864.2:c.*72C>T | NP_004855.2:n.*72C>T | |
| NM_004864.3:c.*72C>T | NP_004855.2:n.*72C>T | |
| XM_024451789.1:c.*72C>T | XP_024307557.1:n.*72C>T | |
| NM_004864.4:c.*72C>T MANE Select | NP_004855.2:n.*72C>T |