Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40593199C>T , CM000681.2:g.40593199C>T | GRCh38 |
| NC_000019.9:g.41099105C>T , CM000681.1:g.41099105C>T | GRCh37 |
| NC_000019.8:g.45790945C>T | NCBI36 |
| NG_021201.1:g.5034C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003573.2:c.16+18C>T | NP_003564.2:n.16+18C>T |
| ENST00000204005.13:c.16+18C>T | ENSP00000204005.10:n.16+18C>T |
| ENST00000600026.5:c.16+18C>T | ENSP00000483230.1:n.16+18C>T |
| XM_011527387.1:c.-464+18C>T | XP_011525689.1:n.-464+18C>T |