Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44888997C>A , CM000681.2:g.44888997C>A | GRCh38 |
| NC_000019.9:g.45392254C>A , CM000681.1:g.45392254C>A | GRCh37 |
| NC_000019.8:g.50084094C>A | NCBI36 |
| NG_029149.1:g.47862C>A | |
| NG_042854.1:g.2778C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252483.10:c.*618C>A MANE Select | ENSP00000252483.4:n.*618C>A | |
| ENST00000252483.9:c.2235C>A | ENSP00000252483.4:n.2235C>A | |
| NM_001042724.1:c.*618C>A | NP_001036189.1:n.*618C>A | |
| NM_001042724.2:c.*618C>A MANE Select | NP_001036189.1:n.*618C>A |