Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.508626C>T , CM000681.2:g.508626C>T | GRCh38 |
| NC_000019.9:g.508626C>T , CM000681.1:g.508626C>T | GRCh37 |
| NC_000019.8:g.459626C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_033513.3:c.338+782C>T MANE Select | NP_277048.2:n.338+782C>T |
| ENST00000359315.6:c.338+782C>T MANE Select | ENSP00000352265.4:n.338+782C>T |
| NM_033513.2:c.338+782C>T | NP_277048.2:n.338+782C>T |
| ENST00000588278.1:n.1127C>T |